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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: 2-218661845-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218661845&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BCS1L",
"hgnc_id": 1020,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_004328.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.6957,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "GRACILE syndrome,Mitochondrial complex III deficiency nuclear type 1,Pili torti-deafness syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9508253335952759,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001079866.2",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359273.8",
"protein_coding": true,
"protein_id": "NP_001073335.1",
"strand": true,
"transcript": "NM_001079866.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000359273.8",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001079866.2",
"protein_coding": true,
"protein_id": "ENSP00000352219.3",
"strand": true,
"transcript": "ENST00000359273.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392109.5",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375957.1",
"strand": true,
"transcript": "ENST00000392109.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392111.7",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375959.2",
"strand": true,
"transcript": "ENST00000392111.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000412366.5",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406494.1",
"strand": true,
"transcript": "ENST00000412366.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1296,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931816.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601875.1",
"strand": true,
"transcript": "ENST00000931816.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1296,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945768.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615827.1",
"strand": true,
"transcript": "ENST00000945768.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001257342.2",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244271.1",
"strand": true,
"transcript": "NM_001257342.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001257343.2",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244272.1",
"strand": true,
"transcript": "NM_001257343.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001257344.2",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244273.1",
"strand": true,
"transcript": "NM_001257344.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320717.2",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307646.1",
"strand": true,
"transcript": "NM_001320717.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001371443.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358372.1",
"strand": true,
"transcript": "NM_001371443.1",
"transcript_support_level": null
},
{
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"aa_length": 419,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001371444.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358373.1",
"strand": true,
"transcript": "NM_001371444.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001371446.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358375.1",
"strand": true,
"transcript": "NM_001371446.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001371447.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358376.1",
"strand": true,
"transcript": "NM_001371447.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001371448.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358377.1",
"strand": true,
"transcript": "NM_001371448.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001371449.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358378.1",
"strand": true,
"transcript": "NM_001371449.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 419,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001371450.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358379.1",
"strand": true,
"transcript": "NM_001371450.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374085.1",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361014.1",
"strand": true,
"transcript": "NM_001374085.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004328.5",
"gene_hgnc_id": 1020,
"gene_symbol": "BCS1L",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004319.1",
"strand": true,
"transcript": "NM_004328.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1260,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392110.6",
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