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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: 3-105681597-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105681597&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105681597,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001321786.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170662.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394030.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2394T>C",
"hgvs_p": "p.Asp798Asp",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2394,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321786.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2394T>C",
"hgvs_p": "p.Asp798Asp",
"transcript": "ENST00000954009.1",
"protein_id": "ENSP00000624068.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2394,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954009.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000954008.1",
"protein_id": "ENSP00000624067.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2310,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954008.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321788.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000856782.1",
"protein_id": "ENSP00000526841.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856782.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000856785.1",
"protein_id": "ENSP00000526844.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856785.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000954010.1",
"protein_id": "ENSP00000624069.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 982,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954010.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2307T>C",
"hgvs_p": "p.Asp769Asp",
"transcript": "ENST00000856783.1",
"protein_id": "ENSP00000526842.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 981,
"cds_start": 2307,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856783.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Asp749Asp",
"transcript": "NM_001321789.1",
"protein_id": "NP_001308718.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 961,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321789.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Asp721Asp",
"transcript": "NM_001321794.2",
"protein_id": "NP_001308723.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 933,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321794.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Asp721Asp",
"transcript": "NM_001321795.2",
"protein_id": "NP_001308724.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 933,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321795.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Asp721Asp",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 933,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321796.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Asp721Asp",
"transcript": "ENST00000856780.1",
"protein_id": "ENSP00000526839.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 933,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856780.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2106T>C",
"hgvs_p": "p.Asp702Asp",
"transcript": "ENST00000856784.1",
"protein_id": "ENSP00000526843.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 914,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856784.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.2310T>C",
"hgvs_p": "p.Asp770Asp",
"transcript": "ENST00000405772.5",
"protein_id": "ENSP00000384938.1",
"transcript_support_level": 2,
"aa_start": 770,
"aa_end": null,
"aa_length": 810,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405772.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Asp586Asp",
"transcript": "ENST00000954007.1",
"protein_id": "ENSP00000624066.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 798,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954007.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1530T>C",
"hgvs_p": "p.Asp510Asp",
"transcript": "NM_001321806.2",
"protein_id": "NP_001308735.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 722,
"cds_start": 1530,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321806.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1530T>C",
"hgvs_p": "p.Asp510Asp",
"transcript": "NM_001321807.2",
"protein_id": "NP_001308736.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 722,
"cds_start": 1530,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321807.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1383T>C",
"hgvs_p": "p.Asp461Asp",
"transcript": "NM_001321811.2",
"protein_id": "NP_001308740.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 673,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321811.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1383T>C",
"hgvs_p": "p.Asp461Asp",
"transcript": "NM_001321813.1",
"protein_id": "NP_001308742.1",
"transcript_support_level": null,
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"biotype": "pseudogene",
"feature": "NR_135809.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.2338+127T>C",
"hgvs_p": null,
"transcript": "NR_135812.1",
"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": 6486,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135812.1"
}
],
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"dbsnp": "rs1408168771",
"frequency_reference_population": 0.0000012390959,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84069e-7,
"gnomad_genomes_af": 0.00000656858,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.947,
"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_001321786.1",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2394T>C",
"hgvs_p": "p.Asp798Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}