← Back to variant description
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: X-32310253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=32310253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DMD",
"hgnc_id": 2928,
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"inheritance_mode": "XL,AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_004006.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_score": -1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1374,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Becker muscular dystrophy,Cardiomyopathy,Cardiovascular phenotype,Duchenne muscular dystrophy,Dystrophin deficiency",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11258509755134583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3685,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13992,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 11058,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_004006.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357033.9",
"protein_coding": true,
"protein_id": "NP_003997.2",
"strand": false,
"transcript": "NM_004006.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3685,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13992,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 11058,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000357033.9",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004006.3",
"protein_coding": true,
"protein_id": "ENSP00000354923.3",
"strand": false,
"transcript": "ENST00000357033.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3681,
"aa_ref": "M",
"aa_start": 1978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14000,
"cdna_start": 6197,
"cds_end": null,
"cds_length": 11046,
"cds_start": 5934,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_004009.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5934G>A",
"hgvs_p": "p.Met1978Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004000.1",
"strand": false,
"transcript": "NM_004009.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3681,
"aa_ref": "M",
"aa_start": 1978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13932,
"cdna_start": 6129,
"cds_end": null,
"cds_length": 11046,
"cds_start": 5934,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000378677.6",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5934G>A",
"hgvs_p": "p.Met1978Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367948.2",
"strand": false,
"transcript": "ENST00000378677.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3677,
"aa_ref": "M",
"aa_start": 1974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13854,
"cdna_start": 6045,
"cds_end": null,
"cds_length": 11034,
"cds_start": 5922,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_000109.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5922G>A",
"hgvs_p": "p.Met1974Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000100.3",
"strand": false,
"transcript": "NM_000109.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3562,
"aa_ref": "M",
"aa_start": 1859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": 6280,
"cds_end": null,
"cds_length": 10689,
"cds_start": 5577,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_004010.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5577G>A",
"hgvs_p": "p.Met1859Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004001.1",
"strand": false,
"transcript": "NM_004010.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2344,
"aa_ref": "M",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9751,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 7035,
"cds_start": 1923,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004011.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Met641Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004002.3",
"strand": false,
"transcript": "NM_004011.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "M",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9894,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 7026,
"cds_start": 1914,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004012.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1914G>A",
"hgvs_p": "p.Met638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004003.2",
"strand": false,
"transcript": "NM_004012.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2341,
"aa_ref": "M",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9903,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 7026,
"cds_start": 1914,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000619831.5",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1914G>A",
"hgvs_p": "p.Met638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479270.2",
"strand": false,
"transcript": "ENST00000619831.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "M",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8531,
"cdna_start": 792,
"cds_end": null,
"cds_length": 5919,
"cds_start": 792,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000358062.7",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Met264Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350765.3",
"strand": false,
"transcript": "ENST00000358062.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3703,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13960,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 11112,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_006724468.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724531.1",
"strand": false,
"transcript": "XM_006724468.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3695,
"aa_ref": "M",
"aa_start": 1974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13822,
"cdna_start": 6045,
"cds_end": null,
"cds_length": 11088,
"cds_start": 5922,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_006724469.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5922G>A",
"hgvs_p": "p.Met1974Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724532.1",
"strand": false,
"transcript": "XM_006724469.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3690,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13921,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 11073,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 77,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_006724470.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724533.1",
"strand": false,
"transcript": "XM_006724470.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3672,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13953,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 11019,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017029328.2",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884817.1",
"strand": false,
"transcript": "XM_017029328.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3662,
"aa_ref": "M",
"aa_start": 1941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13837,
"cdna_start": 6060,
"cds_end": null,
"cds_length": 10989,
"cds_start": 5823,
"consequences": [
"missense_variant"
],
"exon_count": 77,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_011545467.2",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5823G>A",
"hgvs_p": "p.Met1941Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543769.1",
"strand": false,
"transcript": "XM_011545467.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3657,
"aa_ref": "M",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13822,
"cdna_start": 6045,
"cds_end": null,
"cds_length": 10974,
"cds_start": 5808,
"consequences": [
"missense_variant"
],
"exon_count": 77,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_006724473.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5808G>A",
"hgvs_p": "p.Met1936Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724536.1",
"strand": false,
"transcript": "XM_006724473.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3593,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13630,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 10782,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 74,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_006724474.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724537.1",
"strand": false,
"transcript": "XM_006724474.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3575,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13662,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 10728,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 75,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_006724475.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724538.1",
"strand": false,
"transcript": "XM_006724475.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3295,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10595,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 9888,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_011545468.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543770.1",
"strand": false,
"transcript": "XM_011545468.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6916,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 6501,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017029329.2",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884818.1",
"strand": false,
"transcript": "XM_017029329.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2160,
"aa_ref": "M",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10835,
"cdna_start": 6183,
"cds_end": null,
"cds_length": 6483,
"cds_start": 5946,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017029330.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5946G>A",
"hgvs_p": "p.Met1982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884819.1",
"strand": false,
"transcript": "XM_017029330.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488902.5",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "n.336-93190G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488902.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1241760732",
"effect": "missense_variant",
"frequency_reference_population": 0.0000027375486,
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000273755,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Duchenne muscular dystrophy|Becker muscular dystrophy;Cardiomyopathy;Dystrophin deficiency;Duchenne muscular dystrophy|Cardiovascular phenotype",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.753,
"pos": 32310253,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.132,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004006.3"
}
]
}