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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: 11-64210770-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64210770&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FERMT3",
"hgnc_id": 23151,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_178443.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 884,
"alphamissense_prediction": null,
"alphamissense_score": 0.1076,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "FERMT3-related disorder,Inborn genetic diseases,Leukocyte adhesion deficiency 3,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.023199617862701416,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_031471.6",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345728.10",
"protein_coding": true,
"protein_id": "NP_113659.3",
"strand": true,
"transcript": "NM_031471.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345728.10",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031471.6",
"protein_coding": true,
"protein_id": "ENSP00000339950.5",
"strand": true,
"transcript": "ENST00000345728.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 479,
"cds_end": null,
"cds_length": 2004,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000279227.10",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000279227.5",
"strand": true,
"transcript": "ENST00000279227.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 426,
"cds_end": null,
"cds_length": 2013,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698865.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513992.1",
"strand": true,
"transcript": "ENST00000698865.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 670,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 360,
"cds_end": null,
"cds_length": 2013,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962569.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632628.1",
"strand": true,
"transcript": "ENST00000962569.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 425,
"cds_end": null,
"cds_length": 2004,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382362.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369291.1",
"strand": true,
"transcript": "NM_001382362.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 428,
"cds_end": null,
"cds_length": 2004,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_178443.3",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_848537.1",
"strand": true,
"transcript": "NM_178443.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 476,
"cds_end": null,
"cds_length": 2004,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698860.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513988.1",
"strand": true,
"transcript": "ENST00000698860.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382361.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369290.1",
"strand": true,
"transcript": "NM_001382361.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382448.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369377.1",
"strand": true,
"transcript": "NM_001382448.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000544997.6",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445778.2",
"strand": true,
"transcript": "ENST00000544997.6",
"transcript_support_level": 3
},
{
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"aa_length": 663,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000698852.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513984.1",
"strand": true,
"transcript": "ENST00000698852.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 454,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
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"feature": "ENST00000698861.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513989.1",
"strand": true,
"transcript": "ENST00000698861.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 663,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698863.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513991.1",
"strand": true,
"transcript": "ENST00000698863.1",
"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": 2405,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1992,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698870.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513996.1",
"strand": true,
"transcript": "ENST00000698870.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1989,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962568.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632627.1",
"strand": true,
"transcript": "ENST00000962568.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1989,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962570.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000632629.1",
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"transcript": "ENST00000962570.1",
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},
{
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"cdna_start": 433,
"cds_end": null,
"cds_length": 1986,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698878.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514000.1",
"strand": true,
"transcript": "ENST00000698878.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698868.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513994.1",
"strand": true,
"transcript": "ENST00000698868.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 585,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1758,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698869.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513995.1",
"strand": true,
"transcript": "ENST00000698869.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382364.1",
"gene_hgnc_id": 23151,
"gene_symbol": "FERMT3",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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]
}