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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: 12-121004396-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121004396&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121004396,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001286191.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.546A>C",
"hgvs_p": "p.Thr182Thr",
"transcript": "NM_022895.3",
"protein_id": "NP_075046.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 546,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288757.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022895.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.546A>C",
"hgvs_p": "p.Thr182Thr",
"transcript": "ENST00000288757.7",
"protein_id": "ENSP00000288757.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 546,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022895.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288757.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Thr213Thr",
"transcript": "ENST00000537817.5",
"protein_id": "ENSP00000442224.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 293,
"cds_start": 639,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537817.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.642A>C",
"hgvs_p": "p.Thr214Thr",
"transcript": "ENST00000886556.1",
"protein_id": "ENSP00000556615.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 294,
"cds_start": 642,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886556.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Thr213Thr",
"transcript": "NM_001286191.2",
"protein_id": "NP_001273120.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 293,
"cds_start": 639,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286191.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.549A>C",
"hgvs_p": "p.Thr183Thr",
"transcript": "NM_001286192.2",
"protein_id": "NP_001273121.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 263,
"cds_start": 549,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286192.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.549A>C",
"hgvs_p": "p.Thr183Thr",
"transcript": "ENST00000886555.1",
"protein_id": "ENSP00000556614.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 263,
"cds_start": 549,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886555.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.516A>C",
"hgvs_p": "p.Thr172Thr",
"transcript": "NM_001286195.2",
"protein_id": "NP_001273124.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 252,
"cds_start": 516,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286195.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.516A>C",
"hgvs_p": "p.Thr172Thr",
"transcript": "ENST00000539736.5",
"protein_id": "ENSP00000437803.1",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 252,
"cds_start": 516,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539736.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.513A>C",
"hgvs_p": "p.Thr171Thr",
"transcript": "NM_001286196.2",
"protein_id": "NP_001273125.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 251,
"cds_start": 513,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286196.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.513A>C",
"hgvs_p": "p.Thr171Thr",
"transcript": "ENST00000886557.1",
"protein_id": "ENSP00000556616.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 251,
"cds_start": 513,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886557.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.450A>C",
"hgvs_p": "p.Thr150Thr",
"transcript": "NM_001286197.2",
"protein_id": "NP_001273126.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 230,
"cds_start": 450,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286197.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.447A>C",
"hgvs_p": "p.Thr149Thr",
"transcript": "ENST00000886558.1",
"protein_id": "ENSP00000556617.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 229,
"cds_start": 447,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886558.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.423A>C",
"hgvs_p": "p.Thr141Thr",
"transcript": "NM_001286198.2",
"protein_id": "NP_001273127.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 221,
"cds_start": 423,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286198.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.423A>C",
"hgvs_p": "p.Thr141Thr",
"transcript": "ENST00000445832.7",
"protein_id": "ENSP00000409788.3",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 221,
"cds_start": 423,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445832.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.405A>C",
"hgvs_p": "p.Thr135Thr",
"transcript": "ENST00000538296.5",
"protein_id": "ENSP00000442041.2",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 194,
"cds_start": 405,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538296.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.411A>C",
"hgvs_p": "p.Thr137Thr",
"transcript": "ENST00000535367.1",
"protein_id": "ENSP00000438856.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 187,
"cds_start": 411,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535367.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.420A>C",
"hgvs_p": "p.Thr140Thr",
"transcript": "XM_017019829.3",
"protein_id": "XP_016875318.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 220,
"cds_start": 420,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019829.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "c.411A>C",
"hgvs_p": "p.Thr137Thr",
"transcript": "XM_047429368.1",
"protein_id": "XP_047285324.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 217,
"cds_start": 411,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "n.1097A>C",
"hgvs_p": null,
"transcript": "ENST00000502891.6",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502891.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "n.*605A>C",
"hgvs_p": null,
"transcript": "ENST00000546272.5",
"protein_id": "ENSP00000443642.2",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf43",
"gene_hgnc_id": 25719,
"hgvs_c": "n.572A>C",
"hgvs_p": null,
"transcript": "NR_104409.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104409.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"gene_symbol": "C12orf43",
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"hgvs_c": "n.*605A>C",
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"transcript": "ENST00000546272.5",
"protein_id": "ENSP00000443642.2",
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546272.5"
}
],
"gene_symbol": "C12orf43",
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"dbsnp": "rs3751151",
"frequency_reference_population": 6.8409184e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84092e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008999999612569809,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.929,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001286191.2",
"gene_symbol": "C12orf43",
"hgnc_id": 25719,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Thr213Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}