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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: 9-72360692-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72360692&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZFAND5",
"hgnc_id": 13008,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_006007.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC01504",
"hgnc_id": 51185,
"hgvs_c": "n.266-3177C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000783354.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9941,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8055187463760376,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5841,
"cdna_start": 746,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001102420.3",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376962.10",
"protein_coding": true,
"protein_id": "NP_001095890.1",
"strand": false,
"transcript": "NM_001102420.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5841,
"cdna_start": 746,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000376962.10",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001102420.3",
"protein_coding": true,
"protein_id": "ENSP00000366161.5",
"strand": false,
"transcript": "ENST00000376962.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 636,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376960.8",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366159.4",
"strand": false,
"transcript": "ENST00000376960.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 609,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001102421.3",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001095891.1",
"strand": false,
"transcript": "NM_001102421.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5423,
"cdna_start": 328,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278243.2",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265172.1",
"strand": false,
"transcript": "NM_001278243.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5310,
"cdna_start": 227,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278244.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265173.1",
"strand": false,
"transcript": "NM_001278244.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5420,
"cdna_start": 325,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278245.2",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265174.1",
"strand": false,
"transcript": "NM_001278245.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 606,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006007.4",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005998.1",
"strand": false,
"transcript": "NM_006007.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5310,
"cdna_start": 227,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000237937.7",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000237937.3",
"strand": false,
"transcript": "ENST00000237937.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 398,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000343431.6",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350586.2",
"strand": false,
"transcript": "ENST00000343431.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6969,
"cdna_start": 4523,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896944.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567003.1",
"strand": false,
"transcript": "ENST00000896944.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896945.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567004.1",
"strand": false,
"transcript": "ENST00000896945.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 213,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 633,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916941.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587000.1",
"strand": false,
"transcript": "ENST00000916941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 822,
"cds_end": null,
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"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962950.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633009.1",
"strand": false,
"transcript": "ENST00000962950.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 213,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 855,
"cds_end": null,
"cds_length": 642,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962951.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633010.1",
"strand": false,
"transcript": "ENST00000962951.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 211,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 773,
"cds_end": null,
"cds_length": 636,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896946.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567005.1",
"strand": false,
"transcript": "ENST00000896946.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 615,
"cds_end": null,
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"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896947.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567006.1",
"strand": false,
"transcript": "ENST00000896947.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 210,
"aa_ref": "M",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 299,
"cds_end": null,
"cds_length": 634,
"cds_start": 243,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376956.3",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Met81Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366155.3",
"strand": false,
"transcript": "ENST00000376956.3",
"transcript_support_level": 5
},
{
"aa_alt": "I",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 412,
"cds_end": null,
"cds_length": 426,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896949.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567008.1",
"strand": false,
"transcript": "ENST00000896949.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 141,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 618,
"cds_end": null,
"cds_length": 426,
"cds_start": 87,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962952.1",
"gene_hgnc_id": 13008,
"gene_symbol": "ZFAND5",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Met29Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633011.1",
"strand": false,
"transcript": "ENST00000962952.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 99,
"aa_ref": "M",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 618,
"cds_end": null,
"cds_length": 300,
"cds_start": 87,
"consequences": [
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]
}