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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: 7-156658494-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=156658494&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF32",
"hgnc_id": 17118,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_030936.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RNF32-AS1",
"hgnc_id": 40798,
"hgvs_c": "n.1466C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NR_189273.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3134,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9402257204055786,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_030936.4",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000317955.10",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000392743.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000432459.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 310,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 762,
"cds_end": null,
"cds_length": 933,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000311822.12",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 696,
"cds_end": null,
"cds_length": 708,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000392741.6",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376497.2",
"strand": true,
"transcript": "ENST00000392741.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001184996.2",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001184997.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000405335.5",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886327.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"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": "K",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886330.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556389.1",
"strand": true,
"transcript": "ENST00000886330.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 362,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886332.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556391.1",
"strand": true,
"transcript": "ENST00000886332.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886333.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556392.1",
"strand": true,
"transcript": "ENST00000886333.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 362,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 1089,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886334.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556393.1",
"strand": true,
"transcript": "ENST00000886334.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1050,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886328.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556387.1",
"strand": true,
"transcript": "ENST00000886328.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 349,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1050,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886331.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"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": "K",
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"aa_length": 349,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 705,
"cds_end": null,
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"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000972044.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000642103.1",
"strand": true,
"transcript": "ENST00000972044.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1050,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000972045.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642104.1",
"strand": true,
"transcript": "ENST00000972045.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 342,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1029,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886329.1",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Lys",
"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": "K",
"aa_end": null,
"aa_length": 310,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 867,
"cds_end": null,
"cds_length": 933,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001308273.2",
"gene_hgnc_id": 17118,
"gene_symbol": "RNF32",
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295202.1",
"strand": true,
"transcript": "NM_001308273.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 685,
"cds_end": null,
"cds_length": 708,
"cds_start": 608,
"consequences": [
"missense_variant"
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