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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: 7-150369797-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150369797&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "REPIN1",
"hgnc_id": 17922,
"hgvs_c": "c.95G>C",
"hgvs_p": "p.Arg32Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001388037.1",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF775",
"hgnc_id": 28501,
"hgvs_c": "c.-50+856G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000478789.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "REPIN1-AS1",
"hgnc_id": 41201,
"hgvs_c": "n.176+1281C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000488310.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 385,
"alphamissense_prediction": null,
"alphamissense_score": 0.4157,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"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": 0.0032819509506225586,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001099695.2",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000489432.7",
"protein_coding": true,
"protein_id": "NP_001093165.1",
"strand": true,
"transcript": "NM_001099695.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000489432.7",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099695.2",
"protein_coding": true,
"protein_id": "ENSP00000417291.2",
"strand": true,
"transcript": "ENST00000489432.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444957.3",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.-15+856G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407714.1",
"strand": true,
"transcript": "ENST00000444957.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1022,
"cdna_start": null,
"cds_end": null,
"cds_length": 168,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466559.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.39+856G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418507.1",
"strand": true,
"transcript": "ENST00000466559.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1881,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388037.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.95G>C",
"hgvs_p": "p.Arg32Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374966.1",
"strand": true,
"transcript": "NM_001388037.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001362745.2",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349674.1",
"strand": true,
"transcript": "NM_001362745.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388038.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374967.1",
"strand": true,
"transcript": "NM_001388038.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388039.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374968.1",
"strand": true,
"transcript": "NM_001388039.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001388040.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374969.1",
"strand": true,
"transcript": "NM_001388040.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892312.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562371.1",
"strand": true,
"transcript": "ENST00000892312.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 624,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892313.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562372.1",
"strand": true,
"transcript": "ENST00000892313.1",
"transcript_support_level": null
},
{
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"aa_length": 624,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 776,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 2,
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"feature": "ENST00000892314.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562373.1",
"strand": true,
"transcript": "ENST00000892314.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 624,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 225,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892315.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562374.1",
"strand": true,
"transcript": "ENST00000892315.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 578,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 3,
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"exon_rank_end": null,
"feature": "ENST00000892316.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562375.1",
"strand": true,
"transcript": "ENST00000892316.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 624,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932521.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602580.1",
"strand": true,
"transcript": "ENST00000932521.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 257,
"cds_end": null,
"cds_length": 1875,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932522.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602581.1",
"strand": true,
"transcript": "ENST00000932522.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 350,
"cds_end": null,
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"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388041.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374970.1",
"strand": true,
"transcript": "NM_001388041.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 3127,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1872,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388042.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374971.1",
"strand": true,
"transcript": "NM_001388042.1",
"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": 3219,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1872,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388043.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374972.1",
"strand": true,
"transcript": "NM_001388043.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1872,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388044.1",
"gene_hgnc_id": 17922,
"gene_symbol": "REPIN1",
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Arg29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374973.1",
"strand": true,
"transcript": "NM_001388044.1",
"transcript_support_level": null
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