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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: 9-135779468-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135779468&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135779468,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000371757.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2839A>G",
"hgvs_p": "p.Lys947Glu",
"transcript": "NM_020822.3",
"protein_id": "NP_065873.2",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "ENST00000371757.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2839A>G",
"hgvs_p": "p.Lys947Glu",
"transcript": "ENST00000371757.7",
"protein_id": "ENSP00000360822.2",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "NM_020822.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*2449A>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"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": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*2449A>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"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": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2839A>G",
"hgvs_p": "p.Lys947Glu",
"transcript": "ENST00000487664.5",
"protein_id": "ENSP00000417851.2",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2782A>G",
"hgvs_p": "p.Lys928Glu",
"transcript": "ENST00000631073.2",
"protein_id": "ENSP00000486130.1",
"transcript_support_level": 5,
"aa_start": 928,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2776A>G",
"hgvs_p": "p.Lys926Glu",
"transcript": "ENST00000490355.6",
"protein_id": "ENSP00000418003.3",
"transcript_support_level": 5,
"aa_start": 926,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2782A>G",
"hgvs_p": "p.Lys928Glu",
"transcript": "ENST00000488444.6",
"protein_id": "ENSP00000419007.3",
"transcript_support_level": 5,
"aa_start": 928,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2740A>G",
"hgvs_p": "p.Lys914Glu",
"transcript": "ENST00000263604.5",
"protein_id": "ENSP00000263604.4",
"transcript_support_level": 5,
"aa_start": 914,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2740,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2856,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2722A>G",
"hgvs_p": "p.Lys908Glu",
"transcript": "ENST00000486577.6",
"protein_id": "ENSP00000417578.3",
"transcript_support_level": 5,
"aa_start": 908,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2782A>G",
"hgvs_p": "p.Lys928Glu",
"transcript": "ENST00000491806.6",
"protein_id": "ENSP00000419086.3",
"transcript_support_level": 5,
"aa_start": 928,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2704A>G",
"hgvs_p": "p.Lys902Glu",
"transcript": "NM_001272003.2",
"protein_id": "NP_001258932.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 7051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2704A>G",
"hgvs_p": "p.Lys902Glu",
"transcript": "ENST00000628528.2",
"protein_id": "ENSP00000486374.1",
"transcript_support_level": 2,
"aa_start": 902,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 7057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2680A>G",
"hgvs_p": "p.Lys894Glu",
"transcript": "ENST00000674572.1",
"protein_id": "ENSP00000501742.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 2947,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2674A>G",
"hgvs_p": "p.Lys892Glu",
"transcript": "ENST00000630792.2",
"protein_id": "ENSP00000486486.1",
"transcript_support_level": 5,
"aa_start": 892,
"aa_end": null,
"aa_length": 1201,
"cds_start": 2674,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2596A>G",
"hgvs_p": "p.Lys866Glu",
"transcript": "ENST00000676421.1",
"protein_id": "ENSP00000502322.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Lys863Glu",
"transcript": "ENST00000675399.1",
"protein_id": "ENSP00000501932.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Lys863Glu",
"transcript": "ENST00000675090.1",
"protein_id": "ENSP00000501833.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Lys995Glu",
"transcript": "XM_011518878.4",
"protein_id": "XP_011517180.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 2983,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "XM_011518879.4",
"protein_id": "XP_011517181.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1280,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 2974,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2773A>G",
"hgvs_p": "p.Lys925Glu",
"transcript": "XM_017014931.2",
"protein_id": "XP_016870420.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2740A>G",
"hgvs_p": "p.Lys914Glu",
"transcript": "XM_011518880.2",
"protein_id": "XP_011517182.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1223,
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}
],
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"dbsnp": "rs1057519544",
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"computational_score_selected": 0.7503376603126526,
"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.884,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 7,
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"criteria": [
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"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000371757.7",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "Malignant migrating partial seizures of infancy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Malignant migrating partial seizures of infancy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}