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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: 6-109786448-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109786448&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109786448,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000230124.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "NM_014845.6",
"protein_id": "NP_055660.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 907,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000230124.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000230124.8",
"protein_id": "ENSP00000230124.4",
"transcript_support_level": 1,
"aa_start": 699,
"aa_end": null,
"aa_length": 907,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_014845.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Cys",
"transcript": "ENST00000674884.1",
"protein_id": "ENSP00000502668.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 913,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2089C>T",
"hgvs_p": "p.Arg697Cys",
"transcript": "ENST00000674744.1",
"protein_id": "ENSP00000501661.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 905,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000675726.1",
"protein_id": "ENSP00000502452.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 878,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000675772.1",
"protein_id": "ENSP00000501678.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 864,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656Cys",
"transcript": "ENST00000676442.1",
"protein_id": "ENSP00000502595.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 864,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000675284.1",
"protein_id": "ENSP00000502758.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 849,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622Cys",
"transcript": "ENST00000675523.1",
"protein_id": "ENSP00000502384.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 830,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000675714.1",
"protein_id": "ENSP00000502561.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 816,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622Cys",
"transcript": "ENST00000674933.1",
"protein_id": "ENSP00000502376.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 801,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Cys",
"transcript": "ENST00000674641.1",
"protein_id": "ENSP00000501609.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 792,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568Cys",
"transcript": "ENST00000675831.1",
"protein_id": "ENSP00000502382.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 776,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000674644.1",
"protein_id": "ENSP00000502201.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 489,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1471,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "ENST00000415980.2",
"protein_id": "ENSP00000405660.2",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 409,
"cds_start": 601,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Cys",
"transcript": "XM_011536281.4",
"protein_id": "XP_011534583.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 886,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.443C>T",
"hgvs_p": null,
"transcript": "ENST00000419951.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.5291C>T",
"hgvs_p": null,
"transcript": "ENST00000674532.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1388C>T",
"hgvs_p": null,
"transcript": "ENST00000674557.1",
"protein_id": "ENSP00000501608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1214C>T",
"hgvs_p": null,
"transcript": "ENST00000674569.1",
"protein_id": "ENSP00000502769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1214C>T",
"hgvs_p": null,
"transcript": "ENST00000674571.1",
"protein_id": "ENSP00000501633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1214C>T",
"hgvs_p": null,
"transcript": "ENST00000674575.1",
"protein_id": "ENSP00000502276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
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"dbscsnv_ada_score": 0.997475485071619,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000230124.8",
"gene_symbol": "FIG4",
"hgnc_id": 16873,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,FIG4-related disorder,Inborn genetic diseases,Yunis-Varon syndrome,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4|not specified|Yunis-Varon syndrome|FIG4-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}