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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: 11-64211648-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64211648&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64211648,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000345728.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "NM_031471.6",
"protein_id": "NP_113659.3",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "ENST00000345728.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000345728.10",
"protein_id": "ENSP00000339950.5",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "NM_031471.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000279227.10",
"protein_id": "ENSP00000279227.5",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 667,
"cds_start": 687,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698865.1",
"protein_id": "ENSP00000513992.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 670,
"cds_start": 687,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "NM_001382362.1",
"protein_id": "NP_001369291.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 667,
"cds_start": 687,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "NM_178443.3",
"protein_id": "NP_848537.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 667,
"cds_start": 687,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698860.1",
"protein_id": "ENSP00000513988.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 667,
"cds_start": 687,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "NM_001382361.1",
"protein_id": "NP_001369290.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "NM_001382448.1",
"protein_id": "NP_001369377.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000544997.6",
"protein_id": "ENSP00000445778.2",
"transcript_support_level": 3,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698852.1",
"protein_id": "ENSP00000513984.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698861.1",
"protein_id": "ENSP00000513989.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698863.1",
"protein_id": "ENSP00000513991.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698870.1",
"protein_id": "ENSP00000513996.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 663,
"cds_start": 687,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 836,
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"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698878.1",
"protein_id": "ENSP00000514000.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 661,
"cds_start": 687,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698868.1",
"protein_id": "ENSP00000513994.1",
"transcript_support_level": null,
"aa_start": 229,
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"cds_start": 687,
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"cdna_start": 774,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"transcript": "ENST00000698869.1",
"protein_id": "ENSP00000513995.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 585,
"cds_start": 687,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "NM_001382364.1",
"protein_id": "NP_001369293.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 487,
"cds_start": 147,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "NM_001382363.1",
"protein_id": "NP_001369292.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
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"cds_start": 147,
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"cdna_start": 728,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "ENST00000541252.2",
"protein_id": "ENSP00000438885.2",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 483,
"cds_start": 147,
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"cdna_start": 662,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "ENST00000698874.1",
"protein_id": "ENSP00000513999.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 483,
"cds_start": 147,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "XM_047427676.1",
"protein_id": "XP_047283632.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 487,
"cds_start": 147,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.4G>A",
"hgvs_p": null,
"transcript": "ENST00000541326.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.926,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000345728.10",
"gene_symbol": "FERMT3",
"hgnc_id": 23151,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*"
}
],
"clinvar_disease": "Leukocyte adhesion deficiency 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Leukocyte adhesion deficiency 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}