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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: 21-34792182-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34792182&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUNX1",
"hgnc_id": 10471,
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001754.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0907,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary thrombocytopenia and hematologic cancer predisposition syndrome,Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:4 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4097976088523865,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001754.5",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675419.1",
"protein_coding": true,
"protein_id": "NP_001745.2",
"strand": false,
"transcript": "NM_001754.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000675419.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001754.5",
"protein_coding": true,
"protein_id": "ENSP00000501943.1",
"strand": false,
"transcript": "ENST00000675419.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6222,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000300305.7",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300305.3",
"strand": false,
"transcript": "ENST00000300305.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7274,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344691.8",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340690.4",
"strand": false,
"transcript": "ENST00000344691.8",
"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": 1710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000482318.5",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "n.*986A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477067.1",
"strand": false,
"transcript": "ENST00000482318.5",
"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": 1710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000482318.5",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "n.*986A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477067.1",
"strand": false,
"transcript": "ENST00000482318.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 467,
"aa_ref": "M",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882527.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Met453Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552586.1",
"strand": false,
"transcript": "ENST00000882527.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7283,
"cdna_start": 2902,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001001890.3",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001890.1",
"strand": false,
"transcript": "NM_001001890.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 389,
"aa_ref": "M",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000399240.5",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Met375Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382184.1",
"strand": false,
"transcript": "ENST00000399240.5",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6058,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011529766.3",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528068.1",
"strand": false,
"transcript": "XM_011529766.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6180,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441007.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Met466Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296963.1",
"strand": false,
"transcript": "XM_047441007.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "M",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005261068.4",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1360A>G",
"hgvs_p": "p.Met454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261125.1",
"strand": false,
"transcript": "XM_005261068.4",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5932,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011529767.3",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Met453Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528069.1",
"strand": false,
"transcript": "XM_011529767.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 467,
"aa_ref": "M",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6141,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047441009.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Met453Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296965.1",
"strand": false,
"transcript": "XM_047441009.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 467,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6019,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441010.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Met453Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296966.1",
"strand": false,
"transcript": "XM_047441010.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 416,
"aa_ref": "M",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005261069.5",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Met402Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261126.1",
"strand": false,
"transcript": "XM_005261069.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 416,
"aa_ref": "M",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047441011.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Met402Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296967.1",
"strand": false,
"transcript": "XM_047441011.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 416,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5866,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441012.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Met402Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296968.1",
"strand": false,
"transcript": "XM_047441012.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 404,
"aa_ref": "M",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5572,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047441013.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Met390Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296969.1",
"strand": false,
"transcript": "XM_047441013.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5740,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011529768.3",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1165A>G",
"hgvs_p": "p.Met389Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528070.1",
"strand": false,
"transcript": "XM_011529768.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047441014.1",
"gene_hgnc_id": 10471,
"gene_symbol": "RUNX1",
"hgvs_c": "c.1165A>G",
"hgvs_p": "p.Met389Val",
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{
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}
]
}