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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: 11-837475-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=837475&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CD151",
"hgnc_id": 1630,
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004357.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "POLR2L",
"hgnc_id": 9199,
"hgvs_c": "n.*241T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000534030.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9709,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8827520608901978,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 616,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004357.5",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397420.9",
"protein_coding": true,
"protein_id": "NP_004348.2",
"strand": true,
"transcript": "NM_004357.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 616,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397420.9",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004357.5",
"protein_coding": true,
"protein_id": "ENSP00000380565.3",
"strand": true,
"transcript": "ENST00000397420.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 612,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000322008.9",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324101.4",
"strand": true,
"transcript": "ENST00000322008.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 554,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397421.5",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380566.1",
"strand": true,
"transcript": "ENST00000397421.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 715,
"cds_end": null,
"cds_length": 861,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890775.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.571A>C",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560834.1",
"strand": true,
"transcript": "ENST00000890775.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 580,
"cds_end": null,
"cds_length": 792,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890776.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.502A>C",
"hgvs_p": "p.Ser168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560835.1",
"strand": true,
"transcript": "ENST00000890776.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 541,
"cds_end": null,
"cds_length": 792,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890784.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.502A>C",
"hgvs_p": "p.Ser168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560843.1",
"strand": true,
"transcript": "ENST00000890784.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 566,
"cds_end": null,
"cds_length": 792,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890788.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.502A>C",
"hgvs_p": "p.Ser168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560847.1",
"strand": true,
"transcript": "ENST00000890788.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "S",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 620,
"cds_end": null,
"cds_length": 783,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919380.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Ser165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589439.1",
"strand": true,
"transcript": "ENST00000919380.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "S",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 573,
"cds_end": null,
"cds_length": 783,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946305.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Ser165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616364.1",
"strand": true,
"transcript": "ENST00000946305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 550,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001039490.2",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034579.1",
"strand": true,
"transcript": "NM_001039490.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 612,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_139029.2",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620598.1",
"strand": true,
"transcript": "NM_139029.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 554,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_139030.4",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620599.1",
"strand": true,
"transcript": "NM_139030.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 763,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000890766.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560825.1",
"strand": true,
"transcript": "ENST00000890766.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 684,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890768.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560827.1",
"strand": true,
"transcript": "ENST00000890768.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 615,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890769.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560828.1",
"strand": true,
"transcript": "ENST00000890769.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 692,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000890774.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560833.1",
"strand": true,
"transcript": "ENST00000890774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 676,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890777.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560836.1",
"strand": true,
"transcript": "ENST00000890777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 812,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890778.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560837.1",
"strand": true,
"transcript": "ENST00000890778.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 796,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890779.1",
"gene_hgnc_id": 1630,
"gene_symbol": "CD151",
"hgvs_c": "c.472A>C",
"hgvs_p": "p.Ser158Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560838.1",
"strand": true,
"transcript": "ENST00000890779.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 253,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 588,
"cds_end": null,
"cds_length": 762,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
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