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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: 12-123161256-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123161256&ref=G&alt=A&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": "MPHOSPH9",
"hgnc_id": 7215,
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_022782.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 1219983,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6369,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3552,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_022782.4",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000606320.6",
"protein_coding": true,
"protein_id": "NP_073619.3",
"strand": false,
"transcript": "NM_022782.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6369,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3552,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000606320.6",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022782.4",
"protein_coding": true,
"protein_id": "ENSP00000475489.1",
"strand": false,
"transcript": "ENST00000606320.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 214,
"aa_ref": "Y",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": 365,
"cds_end": null,
"cds_length": 645,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000541603.6",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Tyr121Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446362.2",
"strand": false,
"transcript": "ENST00000541603.6",
"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": 3097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000302373.8",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000304096.5",
"strand": false,
"transcript": "ENST00000302373.8",
"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": 3414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000539024.5",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441764.1",
"strand": false,
"transcript": "ENST00000539024.5",
"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": 3097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000302373.8",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000304096.5",
"strand": false,
"transcript": "ENST00000302373.8",
"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": 3414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000539024.5",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441764.1",
"strand": false,
"transcript": "ENST00000539024.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "Y",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6361,
"cdna_start": 3478,
"cds_end": null,
"cds_length": 3549,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000908508.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Tyr1086Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578567.1",
"strand": false,
"transcript": "ENST00000908508.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Y",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3171,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000541076.6",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3171C>T",
"hgvs_p": "p.Tyr1057Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445859.2",
"strand": false,
"transcript": "ENST00000541076.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "Y",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6238,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3135,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908507.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Tyr1045Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578566.1",
"strand": false,
"transcript": "ENST00000908507.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "Y",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5801,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3405,
"cds_start": 3114,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000918121.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Tyr1038Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588180.1",
"strand": false,
"transcript": "ENST00000918121.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "Y",
"aa_start": 1035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 3331,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3105,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908510.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3105C>T",
"hgvs_p": "p.Tyr1035Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578569.1",
"strand": false,
"transcript": "ENST00000908510.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1027,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 3301,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3081,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000918122.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3081C>T",
"hgvs_p": "p.Tyr1027Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588181.1",
"strand": false,
"transcript": "ENST00000918122.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "Y",
"aa_start": 1015,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6128,
"cdna_start": 3269,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3045,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000962748.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3045C>T",
"hgvs_p": "p.Tyr1015Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632807.1",
"strand": false,
"transcript": "ENST00000962748.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "Y",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 3238,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3033,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000908509.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3033C>T",
"hgvs_p": "p.Tyr1011Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578568.1",
"strand": false,
"transcript": "ENST00000908509.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "Y",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3200,
"cds_end": null,
"cds_length": 3267,
"cds_start": 2976,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000962750.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.2976C>T",
"hgvs_p": "p.Tyr992Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632809.1",
"strand": false,
"transcript": "ENST00000962750.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "Y",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 3113,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2889,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000962749.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.2889C>T",
"hgvs_p": "p.Tyr963Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632808.1",
"strand": false,
"transcript": "ENST00000962749.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7726,
"cdna_start": 3569,
"cds_end": null,
"cds_length": 3552,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017018673.2",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874162.1",
"strand": false,
"transcript": "XM_017018673.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7643,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3552,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047428055.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284011.1",
"strand": false,
"transcript": "XM_047428055.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7156,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3552,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047428056.1",
"gene_hgnc_id": 7215,
"gene_symbol": "MPHOSPH9",
"hgvs_c": "c.3261C>T",
"hgvs_p": "p.Tyr1087Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284012.1",
"strand": false,
"transcript": "XM_047428056.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "Y",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 3504,
"cds_start": 3261,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
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