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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: 3-47240872-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47240872&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47240872,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413976.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "NM_182902.4",
"protein_id": "NP_878905.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "ENST00000684063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182902.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000684063.1",
"protein_id": "ENSP00000507186.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "NM_182902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684063.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000452770.6",
"protein_id": "ENSP00000391100.2",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452770.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1658A>G",
"hgvs_p": "p.Asn553Ser",
"transcript": "ENST00000444589.6",
"protein_id": "ENSP00000414987.2",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 725,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444589.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1952A>G",
"hgvs_p": "p.Asn651Ser",
"transcript": "NM_001413976.1",
"protein_id": "NP_001400905.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 823,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413976.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"transcript": "NM_001413975.1",
"protein_id": "NP_001400904.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 804,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413975.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "NM_001134878.3",
"protein_id": "NP_001128350.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134878.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000265529.7",
"protein_id": "ENSP00000265529.3",
"transcript_support_level": 5,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265529.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000888734.1",
"protein_id": "ENSP00000558793.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888734.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000888735.1",
"protein_id": "ENSP00000558794.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888735.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000888736.1",
"protein_id": "ENSP00000558795.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888736.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "ENST00000888737.1",
"protein_id": "ENSP00000558796.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888737.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1790A>G",
"hgvs_p": "p.Asn597Ser",
"transcript": "ENST00000964531.1",
"protein_id": "ENSP00000634590.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 769,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964531.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Asn559Ser",
"transcript": "ENST00000964530.1",
"protein_id": "ENSP00000634589.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 731,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964530.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1658A>G",
"hgvs_p": "p.Asn553Ser",
"transcript": "NM_022342.6",
"protein_id": "NP_071737.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 725,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022342.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1658A>G",
"hgvs_p": "p.Asn553Ser",
"transcript": "ENST00000964529.1",
"protein_id": "ENSP00000634588.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 725,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964529.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1628A>G",
"hgvs_p": "p.Asn543Ser",
"transcript": "NM_001377474.1",
"protein_id": "NP_001364403.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 715,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377474.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Asn478Ser",
"transcript": "NM_001377475.1",
"protein_id": "NP_001364404.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 650,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377475.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "XM_017007029.2",
"protein_id": "XP_016862518.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007029.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1853A>G",
"hgvs_p": "p.Asn618Ser",
"transcript": "XM_047448709.1",
"protein_id": "XP_047304665.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 790,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448709.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1757A>G",
"hgvs_p": "p.Asn586Ser",
"transcript": "XM_005265389.5",
"protein_id": "XP_005265446.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 758,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265389.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1952A>G",
"hgvs_p": "p.Asn651Ser",
"transcript": "XM_047448710.1",
"protein_id": "XP_047304666.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 758,
"cds_start": 1952,
"cds_end": null,
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{
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{
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],
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"dbsnp": "rs147260286",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13170024752616882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": "BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001413976.1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000429315.3",
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"effects": [
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],
"inheritance_mode": "",
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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
}