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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: 10-80166946-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80166946&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANXA11",
"hgnc_id": 535,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -19,
"transcript": "NM_001157.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -19,
"allele_count_reference_population": 666246,
"alphamissense_prediction": null,
"alphamissense_score": 0.8018,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "Inclusion body myopathy and brain white matter abnormalities,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0001507401466369629,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6734,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_145868.2",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000422982.8",
"protein_coding": true,
"protein_id": "NP_665875.1",
"strand": false,
"transcript": "NM_145868.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6734,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000422982.8",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145868.2",
"protein_coding": true,
"protein_id": "ENSP00000404412.2",
"strand": false,
"transcript": "ENST00000422982.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6720,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000372231.7",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361305.3",
"strand": false,
"transcript": "ENST00000372231.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6965,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000438331.5",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398610.1",
"strand": false,
"transcript": "ENST00000438331.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1689,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963279.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633338.1",
"strand": false,
"transcript": "ENST00000963279.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 539,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1620,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918176.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588235.1",
"strand": false,
"transcript": "ENST00000918176.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1548,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963285.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633344.1",
"strand": false,
"transcript": "ENST00000963285.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1548,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963295.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633354.1",
"strand": false,
"transcript": "ENST00000963295.1",
"transcript_support_level": null
},
{
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"aa_length": 509,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1530,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856398.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526457.1",
"strand": false,
"transcript": "ENST00000856398.1",
"transcript_support_level": null
},
{
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"aa_length": 509,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1530,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918175.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588234.1",
"strand": false,
"transcript": "ENST00000918175.1",
"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": 6685,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001157.3",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001148.1",
"strand": false,
"transcript": "NM_001157.3",
"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": 1036,
"cds_end": null,
"cds_length": 1518,
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"consequences": [
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],
"exon_count": 17,
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"feature": "NM_001278407.2",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001265336.1",
"strand": false,
"transcript": "NM_001278407.2",
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},
{
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"cds_start": 688,
"consequences": [
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],
"exon_count": 17,
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"feature": "NM_001278408.2",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265337.1",
"strand": false,
"transcript": "NM_001278408.2",
"transcript_support_level": null
},
{
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"aa_length": 505,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1136,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_145869.2",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_665876.1",
"strand": false,
"transcript": "NM_145869.2",
"transcript_support_level": null
},
{
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"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856386.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526445.1",
"strand": false,
"transcript": "ENST00000856386.1",
"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": 2706,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856387.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526446.1",
"strand": false,
"transcript": "ENST00000856387.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 3020,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000856388.1",
"gene_hgnc_id": 535,
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"transcript": "ENST00000856388.1",
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},
{
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],
"exon_count": 16,
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"feature": "ENST00000856389.1",
"gene_hgnc_id": 535,
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"protein_id": "ENSP00000526448.1",
"strand": false,
"transcript": "ENST00000856389.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000856390.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526449.1",
"strand": false,
"transcript": "ENST00000856390.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 2335,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1518,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856391.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526450.1",
"strand": false,
"transcript": "ENST00000856391.1",
"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,
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"cdna_start": 1141,
"cds_end": null,
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"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856393.1",
"gene_hgnc_id": 535,
"gene_symbol": "ANXA11",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Arg230Cys",
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]
}