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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: 7-103303907-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103303907&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMPCB",
"hgnc_id": 9119,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001438231.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 86,
"alphamissense_prediction": null,
"alphamissense_score": 0.9506,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "7",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Inborn genetic diseases,Multiple mitochondrial dysfunctions syndrome 6,PMPCB-related mitochondrial disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8664441108703613,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1470,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004279.3",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000249269.9",
"protein_coding": true,
"protein_id": "NP_004270.2",
"strand": true,
"transcript": "NM_004279.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1470,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000249269.9",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004279.3",
"protein_coding": true,
"protein_id": "ENSP00000249269.4",
"strand": true,
"transcript": "ENST00000249269.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1473,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000428154.5",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390035.1",
"strand": true,
"transcript": "ENST00000428154.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1527,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706454.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516392.1",
"strand": true,
"transcript": "ENST00000706454.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1521,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706453.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516391.1",
"strand": true,
"transcript": "ENST00000706453.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1509,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706442.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516383.1",
"strand": true,
"transcript": "ENST00000706442.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1473,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438231.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425160.1",
"strand": true,
"transcript": "NM_001438231.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1470,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900040.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570099.1",
"strand": true,
"transcript": "ENST00000900040.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 487,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1464,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900042.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Arg173Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570101.1",
"strand": true,
"transcript": "ENST00000900042.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1449,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706450.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516388.1",
"strand": true,
"transcript": "ENST00000706450.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 482,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1449,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900044.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570103.1",
"strand": true,
"transcript": "ENST00000900044.1",
"transcript_support_level": null
},
{
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"aa_length": 482,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1449,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
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"feature": "ENST00000943376.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613435.1",
"strand": true,
"transcript": "ENST00000943376.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1428,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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"feature": "ENST00000706437.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516380.1",
"strand": true,
"transcript": "ENST00000706437.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 442,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1329,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915585.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585644.1",
"strand": true,
"transcript": "ENST00000915585.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 548,
"cds_end": null,
"cds_length": 1527,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005250717.4",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250774.1",
"strand": true,
"transcript": "XM_005250717.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 506,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1521,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006716181.5",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716244.1",
"strand": true,
"transcript": "XM_006716181.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
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"feature": "XM_047421050.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047277006.1",
"strand": true,
"transcript": "XM_047421050.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047421052.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277008.1",
"strand": true,
"transcript": "XM_047421052.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900041.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.458-79C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570100.1",
"strand": true,
"transcript": "ENST00000900041.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900043.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.457+3600C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570102.1",
"strand": true,
"transcript": "ENST00000900043.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": null,
"cds_end": null,
"cds_length": 1149,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706459.1",
"gene_hgnc_id": 9119,
"gene_symbol": "PMPCB",
"hgvs_c": "c.457+3600C>T",
"hgvs_p": null,
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}