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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: 8-58576021-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58576021&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDCBP",
"hgnc_id": 10662,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001348341.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.2466,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5324553847312927,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 420,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005625.4",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260130.9",
"protein_coding": true,
"protein_id": "NP_005616.2",
"strand": true,
"transcript": "NM_005625.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 420,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000260130.9",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005625.4",
"protein_coding": true,
"protein_id": "ENSP00000260130.4",
"strand": true,
"transcript": "ENST00000260130.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Q",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 462,
"cds_end": null,
"cds_length": 894,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000447182.6",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Gln120Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409288.2",
"strand": true,
"transcript": "ENST00000447182.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 319,
"aa_ref": "Q",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 960,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001348341.2",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335270.1",
"strand": true,
"transcript": "NM_001348341.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "Q",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 957,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330537.2",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317466.1",
"strand": true,
"transcript": "NM_001330537.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "Q",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 957,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001348340.2",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335269.1",
"strand": true,
"transcript": "NM_001348340.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "Q",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 957,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000523483.5",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428184.1",
"strand": true,
"transcript": "ENST00000523483.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "Q",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 422,
"cds_end": null,
"cds_length": 957,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000630925.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487245.1",
"strand": true,
"transcript": "ENST00000630925.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 307,
"aa_ref": "Q",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 447,
"cds_end": null,
"cds_length": 924,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968861.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Gln130Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638920.1",
"strand": true,
"transcript": "ENST00000968861.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 417,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001007067.2",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007068.1",
"strand": true,
"transcript": "NM_001007067.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 461,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000413219.6",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411771.2",
"strand": true,
"transcript": "ENST00000413219.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 411,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870943.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541002.1",
"strand": true,
"transcript": "ENST00000870943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870944.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541003.1",
"strand": true,
"transcript": "ENST00000870944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 515,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870948.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541007.1",
"strand": true,
"transcript": "ENST00000870948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870949.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541008.1",
"strand": true,
"transcript": "ENST00000870949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 958,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870950.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541009.1",
"strand": true,
"transcript": "ENST00000870950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 559,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870952.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541011.1",
"strand": true,
"transcript": "ENST00000870952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870954.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541013.1",
"strand": true,
"transcript": "ENST00000870954.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 616,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870955.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541014.1",
"strand": true,
"transcript": "ENST00000870955.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 3832,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919415.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589474.1",
"strand": true,
"transcript": "ENST00000919415.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 413,
"cds_end": null,
"cds_length": 897,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919416.1",
"gene_hgnc_id": 10662,
"gene_symbol": "SDCBP",
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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]
}