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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: 1-32942286-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32942286&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF19B",
"hgnc_id": 26886,
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_153341.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287691",
"hgnc_id": null,
"hgvs_c": "n.363+7932C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000661031.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8785,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.528836727142334,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 731,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001300826.2",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000235150.5",
"protein_coding": true,
"protein_id": "NP_001287755.1",
"strand": false,
"transcript": "NM_001300826.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 731,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000235150.5",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300826.2",
"protein_coding": true,
"protein_id": "ENSP00000235150.4",
"strand": false,
"transcript": "ENST00000235150.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373456.11",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362555.7",
"strand": false,
"transcript": "ENST00000373456.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000356990.9",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349482.5",
"strand": false,
"transcript": "ENST00000356990.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 763,
"aa_ref": "G",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1672,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000959794.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1672G>C",
"hgvs_p": "p.Gly558Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629853.1",
"strand": false,
"transcript": "ENST00000959794.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 762,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000959797.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1669G>C",
"hgvs_p": "p.Gly557Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629856.1",
"strand": false,
"transcript": "ENST00000959797.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_153341.4",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_699172.2",
"strand": false,
"transcript": "NM_153341.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 731,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7655,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921592.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591651.1",
"strand": false,
"transcript": "ENST00000921592.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 688,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959791.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629850.1",
"strand": false,
"transcript": "ENST00000959791.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 688,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959796.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629855.1",
"strand": false,
"transcript": "ENST00000959796.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 687,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921593.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591652.1",
"strand": false,
"transcript": "ENST00000921593.1",
"transcript_support_level": null
},
{
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"aa_length": 685,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 2058,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000959795.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1438G>C",
"hgvs_p": "p.Gly480Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629854.1",
"strand": false,
"transcript": "ENST00000959795.1",
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},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959790.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Gly479Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629849.1",
"strand": false,
"transcript": "ENST00000959790.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1627,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959793.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Gly479Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629852.1",
"strand": false,
"transcript": "ENST00000959793.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959798.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Gly410Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629857.1",
"strand": false,
"transcript": "ENST00000959798.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 587,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001127361.3",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120833.1",
"strand": false,
"transcript": "NM_001127361.3",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 1703,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006710356.3",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006710419.1",
"strand": false,
"transcript": "XM_006710356.3",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 1703,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006710357.4",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710420.1",
"strand": false,
"transcript": "XM_006710357.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1700,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047445558.1",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Gly526Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301514.1",
"strand": false,
"transcript": "XM_047445558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 588,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006710358.4",
"gene_hgnc_id": 26886,
"gene_symbol": "RNF19B",
"hgvs_c": "c.1579G>C",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710421.1",
"strand": false,
"transcript": "XM_006710358.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": null,
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