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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: 20-43699880-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=43699880&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYBL2",
"hgnc_id": 7548,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_002466.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.065,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03615480661392212,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 957,
"cds_end": null,
"cds_length": 2103,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002466.4",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217026.5",
"protein_coding": true,
"protein_id": "NP_002457.1",
"strand": true,
"transcript": "NM_002466.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 957,
"cds_end": null,
"cds_length": 2103,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000217026.5",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002466.4",
"protein_coding": true,
"protein_id": "ENSP00000217026.4",
"strand": true,
"transcript": "ENST00000217026.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 742,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 995,
"cds_end": null,
"cds_length": 2229,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913824.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583883.1",
"strand": true,
"transcript": "ENST00000913824.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 728,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2187,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913820.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583879.1",
"strand": true,
"transcript": "ENST00000913820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 716,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2151,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913832.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Ala279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583891.1",
"strand": true,
"transcript": "ENST00000913832.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 712,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 2139,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913817.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583876.1",
"strand": true,
"transcript": "ENST00000913817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2127,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913819.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583878.1",
"strand": true,
"transcript": "ENST00000913819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 707,
"aa_ref": "A",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 2124,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913818.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Ala270Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583877.1",
"strand": true,
"transcript": "ENST00000913818.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 703,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 999,
"cds_end": null,
"cds_length": 2112,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913823.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583882.1",
"strand": true,
"transcript": "ENST00000913823.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 698,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 2097,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913821.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583880.1",
"strand": true,
"transcript": "ENST00000913821.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 691,
"aa_ref": "A",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 939,
"cds_end": null,
"cds_length": 2076,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913822.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Ala239Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583881.1",
"strand": true,
"transcript": "ENST00000913822.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 688,
"aa_ref": "A",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 920,
"cds_end": null,
"cds_length": 2067,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913835.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Ala251Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583894.1",
"strand": true,
"transcript": "ENST00000913835.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 685,
"aa_ref": "A",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 945,
"cds_end": null,
"cds_length": 2058,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913828.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Ala248Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583887.1",
"strand": true,
"transcript": "ENST00000913828.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "A",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 885,
"cds_end": null,
"cds_length": 2031,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278610.2",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Ala239Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265539.1",
"strand": true,
"transcript": "NM_001278610.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "A",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 980,
"cds_end": null,
"cds_length": 2031,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396863.8",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Ala239Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380072.4",
"strand": true,
"transcript": "ENST00000396863.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 2016,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913816.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583875.1",
"strand": true,
"transcript": "ENST00000913816.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 669,
"aa_ref": "A",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2010,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913830.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Ala232Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583889.1",
"strand": true,
"transcript": "ENST00000913830.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 657,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1974,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913815.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583874.1",
"strand": true,
"transcript": "ENST00000913815.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 652,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1959,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913836.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583895.1",
"strand": true,
"transcript": "ENST00000913836.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 652,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1959,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913837.1",
"gene_hgnc_id": 7548,
"gene_symbol": "MYBL2",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583896.1",
"strand": true,
"transcript": "ENST00000913837.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1953,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868544.1",
"gene_hgnc_id": 7548,
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