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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: X-31169541-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31169541&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "DMD",
"hgnc_id": 2928,
"hgvs_c": "c.10454delT",
"hgvs_p": "p.Leu3485fs",
"inheritance_mode": "XL,AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_004006.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000297249",
"hgnc_id": null,
"hgvs_c": "n.271+578delA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 10,
"score": 10,
"transcript": "ENST00000746482.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Becker muscular dystrophy,Dilated cardiomyopathy 3B,Duchenne muscular dystrophy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3685,
"aa_ref": "L",
"aa_start": 3485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13992,
"cdna_start": 10691,
"cds_end": null,
"cds_length": 11058,
"cds_start": 10454,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "NM_004006.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10454delT",
"hgvs_p": "p.Leu3485fs",
"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": null,
"aa_end": null,
"aa_length": 3685,
"aa_ref": "L",
"aa_start": 3485,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13992,
"cdna_start": 10691,
"cds_end": null,
"cds_length": 11058,
"cds_start": 10454,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000357033.9",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10454delT",
"hgvs_p": "p.Leu3485fs",
"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": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1250,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000378723.7",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1250delT",
"hgvs_p": "p.Leu417fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367997.3",
"strand": false,
"transcript": "ENST00000378723.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": "L",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1211,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361471.8",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1211delT",
"hgvs_p": "p.Leu404fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354464.4",
"strand": false,
"transcript": "ENST00000361471.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 617,
"aa_ref": "L",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1250,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000378702.8",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1250delT",
"hgvs_p": "p.Leu417fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367974.4",
"strand": false,
"transcript": "ENST00000378702.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378680.6",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.1019+9127delT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367951.2",
"strand": false,
"transcript": "ENST00000378680.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3681,
"aa_ref": "L",
"aa_start": 3481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14000,
"cdna_start": 10705,
"cds_end": null,
"cds_length": 11046,
"cds_start": 10442,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "NM_004009.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10442delT",
"hgvs_p": "p.Leu3481fs",
"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": null,
"aa_end": null,
"aa_length": 3681,
"aa_ref": "L",
"aa_start": 3481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13932,
"cdna_start": 10637,
"cds_end": null,
"cds_length": 11046,
"cds_start": 10442,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000378677.6",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10442delT",
"hgvs_p": "p.Leu3481fs",
"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": null,
"aa_end": null,
"aa_length": 3677,
"aa_ref": "L",
"aa_start": 3477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13854,
"cdna_start": 10553,
"cds_end": null,
"cds_length": 11034,
"cds_start": 10430,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "NM_000109.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10430delT",
"hgvs_p": "p.Leu3477fs",
"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": null,
"aa_end": null,
"aa_length": 3562,
"aa_ref": "L",
"aa_start": 3362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": 10788,
"cds_end": null,
"cds_length": 10689,
"cds_start": 10085,
"consequences": [
"frameshift_variant"
],
"exon_count": 79,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "NM_004010.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.10085delT",
"hgvs_p": "p.Leu3362fs",
"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": null,
"aa_end": null,
"aa_length": 2344,
"aa_ref": "L",
"aa_start": 2144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9751,
"cdna_start": 6450,
"cds_end": null,
"cds_length": 7035,
"cds_start": 6431,
"consequences": [
"frameshift_variant"
],
"exon_count": 51,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_004011.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.6431delT",
"hgvs_p": "p.Leu2144fs",
"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": null,
"aa_end": null,
"aa_length": 2341,
"aa_ref": "L",
"aa_start": 2141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9894,
"cdna_start": 6593,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6422,
"consequences": [
"frameshift_variant"
],
"exon_count": 51,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_004012.4",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.6422delT",
"hgvs_p": "p.Leu2141fs",
"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": null,
"aa_end": null,
"aa_length": 2341,
"aa_ref": "L",
"aa_start": 2141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9903,
"cdna_start": 6602,
"cds_end": null,
"cds_length": 7026,
"cds_start": 6422,
"consequences": [
"frameshift_variant"
],
"exon_count": 51,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000619831.5",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.6422delT",
"hgvs_p": "p.Leu2141fs",
"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": null,
"aa_end": null,
"aa_length": 1972,
"aa_ref": "L",
"aa_start": 1754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8531,
"cdna_start": 5261,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5261,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000358062.7",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.5261delT",
"hgvs_p": "p.Leu1754fs",
"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": null,
"aa_end": null,
"aa_length": 1243,
"aa_ref": "L",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7384,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3074,
"consequences": [
"frameshift_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_004021.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3074delT",
"hgvs_p": "p.Leu1025fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004012.2",
"strand": false,
"transcript": "NM_004021.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1243,
"aa_ref": "L",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3074,
"consequences": [
"frameshift_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000474231.5",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3074delT",
"hgvs_p": "p.Leu1025fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417123.1",
"strand": false,
"transcript": "ENST00000474231.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1230,
"aa_ref": "L",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7345,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3035,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_004022.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3035delT",
"hgvs_p": "p.Leu1012fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004013.2",
"strand": false,
"transcript": "NM_004022.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1230,
"aa_ref": "L",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7339,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3035,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000359836.5",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3035delT",
"hgvs_p": "p.Leu1012fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352894.1",
"strand": false,
"transcript": "ENST00000359836.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1225,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7416,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 3678,
"cds_start": 3074,
"consequences": [
"frameshift_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_004013.3",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3074delT",
"hgvs_p": "p.Leu1025fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004004.2",
"strand": false,
"transcript": "NM_004013.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1225,
"aa_ref": "L",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7410,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 3678,
"cds_start": 3074,
"consequences": [
"frameshift_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000378707.7",
"gene_hgnc_id": 2928,
"gene_symbol": "DMD",
"hgvs_c": "c.3074delT",
"hgvs_p": "p.Leu1025fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367979.3",
"strand": false,
"transcript": "ENST00000378707.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1212,
"aa_ref": "L",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7361,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3035,
"consequences": [
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}