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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: 1-23082274-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23082274&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23082274,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000400181.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "NM_001009999.3",
"protein_id": "NP_001009999.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 876,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": "ENST00000400181.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His",
"transcript": "ENST00000400181.9",
"protein_id": "ENSP00000383042.5",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 876,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": "NM_001009999.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Tyr761His",
"transcript": "ENST00000356634.7",
"protein_id": "ENSP00000349049.3",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 852,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2359T>C",
"hgvs_p": "p.Tyr787His",
"transcript": "NM_001410762.1",
"protein_id": "NP_001397691.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 878,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2359T>C",
"hgvs_p": "p.Tyr787His",
"transcript": "ENST00000685102.1",
"protein_id": "ENSP00000509257.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 878,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2299T>C",
"hgvs_p": "p.Tyr767His",
"transcript": "NM_001363654.2",
"protein_id": "NP_001350583.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 858,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2299T>C",
"hgvs_p": "p.Tyr767His",
"transcript": "ENST00000465864.2",
"protein_id": "ENSP00000473297.2",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 858,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Tyr761His",
"transcript": "NM_015013.4",
"protein_id": "NP_055828.2",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 852,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2341T>C",
"hgvs_p": "p.Tyr781His",
"transcript": "ENST00000691404.1",
"protein_id": "ENSP00000509252.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 840,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Tyr761His",
"transcript": "ENST00000692975.1",
"protein_id": "ENSP00000509892.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 820,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Tyr761His",
"transcript": "NM_001410763.1",
"protein_id": "NP_001397692.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 802,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Tyr761His",
"transcript": "ENST00000691682.1",
"protein_id": "ENSP00000509679.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 802,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2107T>C",
"hgvs_p": "p.Tyr703His",
"transcript": "ENST00000690627.1",
"protein_id": "ENSP00000508820.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 794,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2095T>C",
"hgvs_p": "p.Tyr699His",
"transcript": "ENST00000692853.1",
"protein_id": "ENSP00000509649.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 790,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2047T>C",
"hgvs_p": "p.Tyr683His",
"transcript": "ENST00000686771.1",
"protein_id": "ENSP00000510484.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 774,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2038T>C",
"hgvs_p": "p.Tyr680His",
"transcript": "ENST00000686270.1",
"protein_id": "ENSP00000509279.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 771,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.1996T>C",
"hgvs_p": "p.Tyr666His",
"transcript": "ENST00000692056.1",
"protein_id": "ENSP00000509505.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 757,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.1912T>C",
"hgvs_p": "p.Tyr638His",
"transcript": "ENST00000692209.1",
"protein_id": "ENSP00000510201.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 729,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.1978T>C",
"hgvs_p": "p.Tyr660His",
"transcript": "ENST00000693156.1",
"protein_id": "ENSP00000510144.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 700,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2132,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.637T>C",
"hgvs_p": "p.Tyr213His",
"transcript": "ENST00000494920.1",
"protein_id": "ENSP00000473294.1",
"transcript_support_level": 3,
"aa_start": 213,
"aa_end": null,
"aa_length": 300,
"cds_start": 637,
"cds_end": null,
"cds_length": 905,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Tyr155His",
"transcript": "ENST00000685243.1",
"protein_id": "ENSP00000508858.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 196,
"cds_start": 463,
"cds_end": null,
"cds_length": 591,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM1A",
"gene_hgnc_id": 29079,
"hgvs_c": "c.2341T>C",
"hgvs_p": "p.Tyr781His",
"transcript": "XM_005245786.3",
"protein_id": "XP_005245843.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 872,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.976329505443573,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.977,
"revel_prediction": "Pathogenic",
"alphamissense_score": 1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000400181.9",
"gene_symbol": "KDM1A",
"hgnc_id": 29079,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2353T>C",
"hgvs_p": "p.Tyr785His"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000427154.1",
"gene_symbol": "ENSG00000240553",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+5524A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}