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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: 20-35004546-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35004546&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35004546,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015638.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "NM_015638.3",
"protein_id": "NP_056453.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015638.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "ENST00000252015.3",
"protein_id": "ENSP00000252015.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015638.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252015.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.2255G>T",
"hgvs_p": "p.Arg752Leu",
"transcript": "ENST00000970992.1",
"protein_id": "ENSP00000641051.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 895,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970992.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "ENST00000888656.1",
"protein_id": "ENSP00000558715.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 839,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888656.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1937G>T",
"hgvs_p": "p.Arg646Leu",
"transcript": "ENST00000888655.1",
"protein_id": "ENSP00000558714.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 831,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888655.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.2021G>T",
"hgvs_p": "p.Arg674Leu",
"transcript": "ENST00000937644.1",
"protein_id": "ENSP00000607703.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 817,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937644.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1997G>T",
"hgvs_p": "p.Arg666Leu",
"transcript": "ENST00000970995.1",
"protein_id": "ENSP00000641054.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 809,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970995.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "ENST00000888645.1",
"protein_id": "ENSP00000558704.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 797,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888645.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "ENST00000937641.1",
"protein_id": "ENSP00000607700.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 796,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937641.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1958G>T",
"hgvs_p": "p.Arg653Leu",
"transcript": "ENST00000970990.1",
"protein_id": "ENSP00000641049.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 796,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970990.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1955G>T",
"hgvs_p": "p.Arg652Leu",
"transcript": "ENST00000888647.1",
"protein_id": "ENSP00000558706.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 795,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888647.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1937G>T",
"hgvs_p": "p.Arg646Leu",
"transcript": "NM_199368.2",
"protein_id": "NP_955400.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 789,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199368.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1937G>T",
"hgvs_p": "p.Arg646Leu",
"transcript": "ENST00000451813.6",
"protein_id": "ENSP00000400614.1",
"transcript_support_level": 2,
"aa_start": 646,
"aa_end": null,
"aa_length": 789,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451813.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1937G>T",
"hgvs_p": "p.Arg646Leu",
"transcript": "ENST00000970988.1",
"protein_id": "ENSP00000641047.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 789,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970988.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1934G>T",
"hgvs_p": "p.Arg645Leu",
"transcript": "ENST00000937646.1",
"protein_id": "ENSP00000607705.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 788,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937646.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1937G>T",
"hgvs_p": "p.Arg646Leu",
"transcript": "ENST00000970994.1",
"protein_id": "ENSP00000641053.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 788,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970994.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1931G>T",
"hgvs_p": "p.Arg644Leu",
"transcript": "ENST00000888654.1",
"protein_id": "ENSP00000558713.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 787,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888654.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu",
"transcript": "ENST00000888657.1",
"protein_id": "ENSP00000558716.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 787,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888657.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1910G>T",
"hgvs_p": "p.Arg637Leu",
"transcript": "ENST00000970989.1",
"protein_id": "ENSP00000641048.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 780,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970989.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1901G>T",
"hgvs_p": "p.Arg634Leu",
"transcript": "ENST00000970991.1",
"protein_id": "ENSP00000641050.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 777,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970991.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1898G>T",
"hgvs_p": "p.Arg633Leu",
"transcript": "ENST00000937648.1",
"protein_id": "ENSP00000607707.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 776,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937648.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1847G>T",
"hgvs_p": "p.Arg616Leu",
"transcript": "ENST00000888650.1",
"protein_id": "ENSP00000558709.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 759,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
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"feature": "XM_047440102.1"
}
],
"gene_symbol": "TRPC4AP",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5532693862915039,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.3838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.756,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015638.3",
"gene_symbol": "TRPC4AP",
"hgnc_id": 16181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Arg654Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}