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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: 7-156676644-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=156676644&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF32",
"hgnc_id": 17118,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_030936.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LMBR1",
"hgnc_id": 13243,
"hgvs_c": "n.73G>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000609081.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.1644,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "7",
"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": 0.12049874663352966,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_030936.4",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317955.10",
"protein_coding": true,
"protein_id": "NP_112198.1",
"strand": true,
"transcript": "NM_030936.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000317955.10",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030936.4",
"protein_coding": true,
"protein_id": "ENSP00000315950.5",
"strand": true,
"transcript": "ENST00000317955.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000392743.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376499.2",
"strand": true,
"transcript": "ENST00000392743.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000432459.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405588.2",
"strand": true,
"transcript": "ENST00000432459.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000311822.12",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.*269C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308894.8",
"strand": true,
"transcript": "ENST00000311822.12",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001184996.2",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171925.1",
"strand": true,
"transcript": "NM_001184996.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001184997.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171926.1",
"strand": true,
"transcript": "NM_001184997.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000405335.5",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385285.1",
"strand": true,
"transcript": "ENST00000405335.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886327.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556386.1",
"strand": true,
"transcript": "ENST00000886327.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886330.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556389.1",
"strand": true,
"transcript": "ENST00000886330.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886332.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556391.1",
"strand": true,
"transcript": "ENST00000886332.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886333.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556392.1",
"strand": true,
"transcript": "ENST00000886333.1",
"transcript_support_level": null
},
{
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"aa_length": 362,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 3344,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886334.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556393.1",
"strand": true,
"transcript": "ENST00000886334.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 349,
"aa_ref": "L",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1050,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886328.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Leu347Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556387.1",
"strand": true,
"transcript": "ENST00000886328.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 349,
"aa_ref": "L",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1050,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886331.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Leu347Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556390.1",
"strand": true,
"transcript": "ENST00000886331.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 349,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1050,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000972044.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Leu347Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642103.1",
"strand": true,
"transcript": "ENST00000972044.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 349,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1050,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000972045.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Leu347Phe",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000642104.1",
"strand": true,
"transcript": "ENST00000972045.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 342,
"aa_ref": "L",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1029,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886329.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Leu340Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556388.1",
"strand": true,
"transcript": "ENST00000886329.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005249522.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005249579.1",
"strand": true,
"transcript": "XM_005249522.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011515804.4",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514106.1",
"strand": true,
"transcript": "XM_011515804.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
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