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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: 3-142804507-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=142804507&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 142804507,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000476941.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Thr677Thr",
"transcript": "NM_001251845.2",
"protein_id": "NP_001238774.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 793,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": "ENST00000476941.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Thr677Thr",
"transcript": "ENST00000476941.6",
"protein_id": "ENSP00000419313.1",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 793,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": "NM_001251845.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000273482.10",
"protein_id": "ENSP00000273482.6",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 759,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Thr780Thr",
"transcript": "ENST00000698238.1",
"protein_id": "ENSP00000513620.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 896,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_003304.5",
"protein_id": "NP_003295.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 759,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1881G>A",
"hgvs_p": "p.Thr627Thr",
"transcript": "NM_001413361.1",
"protein_id": "NP_001400290.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 743,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Thr599Thr",
"transcript": "NM_001413362.1",
"protein_id": "NP_001400291.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 715,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "NM_001413363.1",
"protein_id": "NP_001400292.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 711,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Thr593Thr",
"transcript": "NM_001413376.1",
"protein_id": "NP_001400305.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 709,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 3944,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Thr579Thr",
"transcript": "NM_001413375.1",
"protein_id": "NP_001400304.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 695,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1635G>A",
"hgvs_p": "p.Thr545Thr",
"transcript": "NM_001413377.1",
"protein_id": "NP_001400306.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 661,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Thr531Thr",
"transcript": "NM_001413378.1",
"protein_id": "NP_001400307.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 647,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2258,
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"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1491G>A",
"hgvs_p": "p.Thr497Thr",
"transcript": "NM_001413379.1",
"protein_id": "NP_001400308.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 613,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2156,
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"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1359G>A",
"hgvs_p": "p.Thr453Thr",
"transcript": "NM_001413380.1",
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Thr436Thr",
"transcript": "NM_001413381.1",
"protein_id": "NP_001400310.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
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"cds_start": 1308,
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"cdna_start": 1834,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Thr338Thr",
"transcript": "NM_001413382.1",
"protein_id": "NP_001400311.1",
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.906G>A",
"hgvs_p": "p.Thr302Thr",
"transcript": "NM_001413383.1",
"protein_id": "NP_001400312.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Thr254Thr",
"transcript": "NM_001413384.1",
"protein_id": "NP_001400313.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
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"cds_start": 762,
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"cdna_start": 1288,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "TRPC1",
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"hgvs_p": "p.Thr192Thr",
"transcript": "NM_001413385.1",
"protein_id": "NP_001400314.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "TRPC1",
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"hgvs_c": "c.483G>A",
"hgvs_p": "p.Thr161Thr",
"transcript": "NM_001413386.1",
"protein_id": "NP_001400315.1",
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Thr616Thr",
"transcript": "XM_017007121.3",
"protein_id": "XP_016862610.1",
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"aa_start": 616,
"aa_end": null,
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"cds_start": 1848,
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"cdna_start": 3354,
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"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Thr582Thr",
"transcript": "XM_047448839.1",
"protein_id": "XP_047304795.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 698,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPC1",
"gene_hgnc_id": 12333,
"dbsnp": "rs3821647",
"frequency_reference_population": 0.18686384,
"hom_count_reference_population": 28740,
"allele_count_reference_population": 301414,
"gnomad_exomes_af": 0.186542,
"gnomad_genomes_af": 0.189961,
"gnomad_exomes_ac": 272543,
"gnomad_genomes_ac": 28871,
"gnomad_exomes_homalt": 25927,
"gnomad_genomes_homalt": 2813,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.532,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000476941.6",
"gene_symbol": "TRPC1",
"hgnc_id": 12333,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Thr677Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}