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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: 20-35004532-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35004532&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35004532,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015638.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "NM_015638.3",
"protein_id": "NP_056453.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 797,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": "ENST00000252015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015638.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "ENST00000252015.3",
"protein_id": "ENSP00000252015.2",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 797,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": "NM_015638.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252015.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.2269A>G",
"hgvs_p": "p.Ile757Val",
"transcript": "ENST00000970992.1",
"protein_id": "ENSP00000641051.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 895,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970992.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "ENST00000888656.1",
"protein_id": "ENSP00000558715.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 839,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888656.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1951A>G",
"hgvs_p": "p.Ile651Val",
"transcript": "ENST00000888655.1",
"protein_id": "ENSP00000558714.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 831,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888655.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.2035A>G",
"hgvs_p": "p.Ile679Val",
"transcript": "ENST00000937644.1",
"protein_id": "ENSP00000607703.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 817,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937644.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.2011A>G",
"hgvs_p": "p.Ile671Val",
"transcript": "ENST00000970995.1",
"protein_id": "ENSP00000641054.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 809,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970995.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "ENST00000888645.1",
"protein_id": "ENSP00000558704.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 797,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888645.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "ENST00000937641.1",
"protein_id": "ENSP00000607700.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 796,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937641.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1972A>G",
"hgvs_p": "p.Ile658Val",
"transcript": "ENST00000970990.1",
"protein_id": "ENSP00000641049.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 796,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970990.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1969A>G",
"hgvs_p": "p.Ile657Val",
"transcript": "ENST00000888647.1",
"protein_id": "ENSP00000558706.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 795,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888647.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1951A>G",
"hgvs_p": "p.Ile651Val",
"transcript": "NM_199368.2",
"protein_id": "NP_955400.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 789,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199368.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1951A>G",
"hgvs_p": "p.Ile651Val",
"transcript": "ENST00000451813.6",
"protein_id": "ENSP00000400614.1",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 789,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451813.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1951A>G",
"hgvs_p": "p.Ile651Val",
"transcript": "ENST00000970988.1",
"protein_id": "ENSP00000641047.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 789,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970988.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1948A>G",
"hgvs_p": "p.Ile650Val",
"transcript": "ENST00000937646.1",
"protein_id": "ENSP00000607705.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 788,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937646.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1951A>G",
"hgvs_p": "p.Ile651Val",
"transcript": "ENST00000970994.1",
"protein_id": "ENSP00000641053.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 788,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970994.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1945A>G",
"hgvs_p": "p.Ile649Val",
"transcript": "ENST00000888654.1",
"protein_id": "ENSP00000558713.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 787,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888654.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1975A>G",
"hgvs_p": "p.Ile659Val",
"transcript": "ENST00000888657.1",
"protein_id": "ENSP00000558716.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 787,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888657.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1924A>G",
"hgvs_p": "p.Ile642Val",
"transcript": "ENST00000970989.1",
"protein_id": "ENSP00000641048.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 780,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970989.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "ENST00000970991.1",
"protein_id": "ENSP00000641050.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 777,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970991.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000937648.1",
"protein_id": "ENSP00000607707.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 776,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937648.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1861A>G",
"hgvs_p": "p.Ile621Val",
"transcript": "ENST00000888650.1",
"protein_id": "ENSP00000558709.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 759,
"cds_start": 1861,
"cds_end": null,
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"transcript": "XM_047440102.1",
"protein_id": "XP_047296058.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 399,
"cds_start": 781,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440102.1"
}
],
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"dbsnp": "rs755562413",
"frequency_reference_population": 0.0000020523232,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205232,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09101098775863647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.79,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015638.3",
"gene_symbol": "TRPC4AP",
"hgnc_id": 16181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1975A>G",
"hgvs_p": "p.Ile659Val"
}
],
"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
}