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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: 6-109735199-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109735199&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "FIG4",
"hgnc_id": 16873,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_014845.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "6",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Amyotrophic lateral sclerosis,Amyotrophic lateral sclerosis type 11,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4J,FIG4-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 687,
"cds_end": null,
"cds_length": 2724,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014845.6",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230124.8",
"protein_coding": true,
"protein_id": "NP_055660.1",
"strand": true,
"transcript": "NM_014845.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 687,
"cds_end": null,
"cds_length": 2724,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000230124.8",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014845.6",
"protein_coding": true,
"protein_id": "ENSP00000230124.4",
"strand": true,
"transcript": "ENST00000230124.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 686,
"cds_end": null,
"cds_length": 2742,
"cds_start": 565,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674884.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Arg189*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502668.1",
"strand": true,
"transcript": "ENST00000674884.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 696,
"cds_end": null,
"cds_length": 2718,
"cds_start": 541,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674744.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501661.1",
"strand": true,
"transcript": "ENST00000674744.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 734,
"cds_end": null,
"cds_length": 2637,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675726.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502452.1",
"strand": true,
"transcript": "ENST00000675726.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 687,
"cds_end": null,
"cds_length": 2595,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675772.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501678.1",
"strand": true,
"transcript": "ENST00000675772.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2595,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676442.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502595.1",
"strand": true,
"transcript": "ENST00000676442.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 849,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 687,
"cds_end": null,
"cds_length": 2550,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675284.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502758.1",
"strand": true,
"transcript": "ENST00000675284.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 838,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 671,
"cds_end": null,
"cds_length": 2517,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675096.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502116.1",
"strand": true,
"transcript": "ENST00000675096.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 697,
"cds_end": null,
"cds_length": 2508,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000922531.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592590.1",
"strand": true,
"transcript": "ENST00000922531.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2493,
"cds_start": 316,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675523.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502384.1",
"strand": true,
"transcript": "ENST00000675523.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2451,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675714.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502561.1",
"strand": true,
"transcript": "ENST00000675714.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 801,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 716,
"cds_end": null,
"cds_length": 2406,
"cds_start": 316,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674933.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502376.1",
"strand": true,
"transcript": "ENST00000674933.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 464,
"cds_end": null,
"cds_length": 2379,
"cds_start": 202,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674641.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501609.1",
"strand": true,
"transcript": "ENST00000674641.1",
"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": 2501,
"cdna_start": 670,
"cds_end": null,
"cds_length": 2331,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675831.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502382.1",
"strand": true,
"transcript": "ENST00000675831.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1815,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675681.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502705.1",
"strand": true,
"transcript": "ENST00000675681.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1686,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675973.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502407.1",
"strand": true,
"transcript": "ENST00000675973.1",
"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": 1387,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1086,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676435.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502614.1",
"strand": true,
"transcript": "ENST00000676435.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 687,
"cds_end": null,
"cds_length": 989,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454215.6",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412156.2",
"strand": true,
"transcript": "ENST00000454215.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 688,
"cds_end": null,
"cds_length": 651,
"cds_start": 547,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368941.2",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357937.2",
"strand": true,
"transcript": "ENST00000368941.2",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 214,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 787,
"cds_end": null,
"cds_length": 645,
"cds_start": 316,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675844.1",
"gene_hgnc_id": 16873,
"gene_symbol": "FIG4",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106*",
"intron_rank": null,
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