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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: 17-81245997-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81245997&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC38A10",
"hgnc_id": 28237,
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001037984.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 3305,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001037984.3",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374759.8",
"protein_coding": true,
"protein_id": "NP_001033073.1",
"strand": false,
"transcript": "NM_001037984.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 3305,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000374759.8",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001037984.3",
"protein_coding": true,
"protein_id": "ENSP00000363891.3",
"strand": false,
"transcript": "ENST00000374759.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539643.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "n.995G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000539643.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "Q",
"aa_start": 1030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3090,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000947966.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.3090G>A",
"hgvs_p": "p.Gln1030Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618025.1",
"strand": false,
"transcript": "ENST00000947966.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "Q",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 3419,
"cds_end": null,
"cds_length": 3507,
"cds_start": 3066,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000947971.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Gln1022Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618030.1",
"strand": false,
"transcript": "ENST00000947971.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "Q",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 3452,
"cds_end": null,
"cds_length": 3498,
"cds_start": 3057,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918313.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.3057G>A",
"hgvs_p": "p.Gln1019Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588372.1",
"strand": false,
"transcript": "ENST00000918313.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "Q",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3039,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000947968.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.3039G>A",
"hgvs_p": "p.Gln1013Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618027.1",
"strand": false,
"transcript": "ENST00000947968.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Q",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 3436,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000899482.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Gln1007Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569541.1",
"strand": false,
"transcript": "ENST00000899482.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3429,
"cds_start": 2988,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000947963.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2988G>A",
"hgvs_p": "p.Gln996Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618022.1",
"strand": false,
"transcript": "ENST00000947963.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "Q",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2961,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000947967.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2961G>A",
"hgvs_p": "p.Gln987Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618026.1",
"strand": false,
"transcript": "ENST00000947967.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "Q",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4354,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2946,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000947959.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2946G>A",
"hgvs_p": "p.Gln982Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618018.1",
"strand": false,
"transcript": "ENST00000947959.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "Q",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2940,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000899487.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2940G>A",
"hgvs_p": "p.Gln980Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569546.1",
"strand": false,
"transcript": "ENST00000899487.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "Q",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2940,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000899490.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2940G>A",
"hgvs_p": "p.Gln980Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569549.1",
"strand": false,
"transcript": "ENST00000899490.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "Q",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2895,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000899495.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2895G>A",
"hgvs_p": "p.Gln965Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569554.1",
"strand": false,
"transcript": "ENST00000899495.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "Q",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 3269,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2883,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000899485.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2883G>A",
"hgvs_p": "p.Gln961Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569544.1",
"strand": false,
"transcript": "ENST00000899485.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "Q",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2823,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000947965.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2823G>A",
"hgvs_p": "p.Gln941Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618024.1",
"strand": false,
"transcript": "ENST00000947965.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "Q",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2802,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000899488.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2802G>A",
"hgvs_p": "p.Gln934Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569547.1",
"strand": false,
"transcript": "ENST00000899488.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1079,
"aa_ref": "Q",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3240,
"cds_start": 2799,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000899491.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2799G>A",
"hgvs_p": "p.Gln933Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569550.1",
"strand": false,
"transcript": "ENST00000899491.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "Q",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 3156,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2757,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947960.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2757G>A",
"hgvs_p": "p.Gln919Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618019.1",
"strand": false,
"transcript": "ENST00000947960.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "Q",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3104,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2736,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947969.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Gln912Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618028.1",
"strand": false,
"transcript": "ENST00000947969.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "Q",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2721,
"consequences": [
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