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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: 2-218403304-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218403304&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218403304,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001400269.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_021198.3",
"protein_id": "NP_067021.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 261,
"cds_start": 544,
"cds_end": null,
"cds_length": 786,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": "ENST00000273062.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021198.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000273062.7",
"protein_id": "ENSP00000273062.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 261,
"cds_start": 544,
"cds_end": null,
"cds_length": 786,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": "NM_021198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273062.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "ENST00000885505.1",
"protein_id": "ENSP00000555564.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 277,
"cds_start": 541,
"cds_end": null,
"cds_length": 834,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885505.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001400269.1",
"protein_id": "NP_001387198.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 276,
"cds_start": 544,
"cds_end": null,
"cds_length": 831,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "NM_001400270.1",
"protein_id": "NP_001387199.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 275,
"cds_start": 541,
"cds_end": null,
"cds_length": 828,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Val190Ile",
"transcript": "NM_001400271.1",
"protein_id": "NP_001387200.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 269,
"cds_start": 568,
"cds_end": null,
"cds_length": 810,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400271.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"transcript": "ENST00000452977.6",
"protein_id": "ENSP00000404301.2",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 268,
"cds_start": 565,
"cds_end": null,
"cds_length": 807,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452977.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001400272.1",
"protein_id": "NP_001387201.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 261,
"cds_start": 544,
"cds_end": null,
"cds_length": 786,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400272.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000885504.1",
"protein_id": "ENSP00000555563.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 261,
"cds_start": 544,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885504.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "NM_001206878.2",
"protein_id": "NP_001193807.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206878.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "NM_001400268.1",
"protein_id": "NP_001387197.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400268.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "NM_182642.3",
"protein_id": "NP_872580.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182642.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "ENST00000710837.1",
"protein_id": "ENSP00000518515.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 260,
"cds_start": 541,
"cds_end": null,
"cds_length": 783,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710837.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Val165Ile",
"transcript": "NM_001400273.1",
"protein_id": "NP_001387202.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 244,
"cds_start": 493,
"cds_end": null,
"cds_length": 735,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400273.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "NM_001400274.1",
"protein_id": "NP_001387203.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 242,
"cds_start": 487,
"cds_end": null,
"cds_length": 729,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400274.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Val162Ile",
"transcript": "NM_001400275.1",
"protein_id": "NP_001387204.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 241,
"cds_start": 484,
"cds_end": null,
"cds_length": 726,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400275.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"transcript": "NM_001400276.1",
"protein_id": "NP_001387205.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 226,
"cds_start": 439,
"cds_end": null,
"cds_length": 681,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400276.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000428361.6",
"protein_id": "ENSP00000518517.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 120,
"cds_start": 121,
"cds_end": null,
"cds_length": 363,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428361.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000443891.6",
"protein_id": "ENSP00000392248.2",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 120,
"cds_start": 121,
"cds_end": null,
"cds_length": 363,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443891.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000464255.2",
"protein_id": "ENSP00000518520.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 120,
"cds_start": 121,
"cds_end": null,
"cds_length": 363,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464255.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000473420.6",
"protein_id": "ENSP00000518508.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 120,
"cds_start": 121,
"cds_end": null,
"cds_length": 363,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473420.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000488627.6",
"protein_id": "ENSP00000518519.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 120,
"cds_start": 121,
"cds_end": null,
"cds_length": 363,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1118,
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"gene_hgnc_id": 21614,
"hgvs_c": "n.*216G>A",
"hgvs_p": null,
"transcript": "ENST00000710838.1",
"protein_id": "ENSP00000518516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000710838.1"
}
],
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"dbsnp": "rs757504481",
"frequency_reference_population": 0.000011771718,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116294,
"gnomad_genomes_af": 0.000013138,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28396379947662354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.013,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001400269.1",
"gene_symbol": "CTDSP1",
"hgnc_id": 21614,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile"
}
],
"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
}