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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: 3-27383227-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27383227&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC4A7",
"hgnc_id": 11033,
"hgvs_c": "c.3516T>C",
"hgvs_p": "p.Asp1172Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001321103.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287348",
"hgnc_id": null,
"hgvs_c": "n.994-4445A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000661166.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 1511762,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "D",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8079,
"cdna_start": 3774,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3516,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001321103.2",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3516T>C",
"hgvs_p": "p.Asp1172Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000454389.6",
"protein_coding": true,
"protein_id": "NP_001308032.1",
"strand": false,
"transcript": "NM_001321103.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "D",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8079,
"cdna_start": 3774,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3516,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000454389.6",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3516T>C",
"hgvs_p": "p.Asp1172Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001321103.2",
"protein_coding": true,
"protein_id": "ENSP00000390394.1",
"strand": false,
"transcript": "ENST00000454389.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "D",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3741,
"cds_start": 3477,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000440156.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3477T>C",
"hgvs_p": "p.Asp1159Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414797.1",
"strand": false,
"transcript": "ENST00000440156.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "D",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7757,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3645,
"cds_start": 3489,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000295736.9",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3489T>C",
"hgvs_p": "p.Asp1163Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295736.5",
"strand": false,
"transcript": "ENST00000295736.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "D",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 3747,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3477,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000445684.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3477T>C",
"hgvs_p": "p.Asp1159Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406804.1",
"strand": false,
"transcript": "ENST00000445684.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "D",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3465,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000446700.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3465T>C",
"hgvs_p": "p.Asp1155Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406605.1",
"strand": false,
"transcript": "ENST00000446700.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "D",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 3353,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3132,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000455077.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3132T>C",
"hgvs_p": "p.Asp1044Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407382.1",
"strand": false,
"transcript": "ENST00000455077.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "D",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 3353,
"cds_end": null,
"cds_length": 3288,
"cds_start": 3132,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000437179.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3132T>C",
"hgvs_p": "p.Asp1044Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394252.1",
"strand": false,
"transcript": "ENST00000437179.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "D",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7385,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 3273,
"cds_start": 3117,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000428386.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3117T>C",
"hgvs_p": "p.Asp1039Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416368.1",
"strand": false,
"transcript": "ENST00000428386.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 801,
"aa_ref": "D",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6447,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2142,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000419036.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.2142T>C",
"hgvs_p": "p.Asp714Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411031.1",
"strand": false,
"transcript": "ENST00000419036.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000437266.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409418.1",
"strand": false,
"transcript": "ENST00000437266.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000438530.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407304.1",
"strand": false,
"transcript": "ENST00000438530.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000457377.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408323.1",
"strand": false,
"transcript": "ENST00000457377.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000437266.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409418.1",
"strand": false,
"transcript": "ENST00000437266.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000438530.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407304.1",
"strand": false,
"transcript": "ENST00000438530.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000457377.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "n.*1565T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408323.1",
"strand": false,
"transcript": "ENST00000457377.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "D",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": 3778,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3504,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000935549.1",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3504T>C",
"hgvs_p": "p.Asp1168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605608.1",
"strand": false,
"transcript": "ENST00000935549.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "D",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8040,
"cdna_start": 3735,
"cds_end": null,
"cds_length": 3741,
"cds_start": 3477,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001321104.2",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3477T>C",
"hgvs_p": "p.Asp1159Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308033.1",
"strand": false,
"transcript": "NM_001321104.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "D",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8036,
"cdna_start": 3841,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3516,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963935.1",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3516T>C",
"hgvs_p": "p.Asp1172Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633994.1",
"strand": false,
"transcript": "ENST00000963935.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "D",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7781,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3645,
"cds_start": 3489,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_003615.5",
"gene_hgnc_id": 11033,
"gene_symbol": "SLC4A7",
"hgvs_c": "c.3489T>C",
"hgvs_p": "p.Asp1163Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003606.3",
"strand": false,
"transcript": "NM_003615.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "D",
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