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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: 7-128957259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128957259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TNPO3",
"hgnc_id": 17103,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001382216.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.7307,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal dominant limb-girdle muscular dystrophy type 1F,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8153529167175293,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_012470.4",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265388.10",
"protein_coding": true,
"protein_id": "NP_036602.1",
"strand": false,
"transcript": "NM_012470.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000265388.10",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012470.4",
"protein_coding": true,
"protein_id": "ENSP00000265388.5",
"strand": false,
"transcript": "ENST00000265388.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000471234.5",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418646.1",
"strand": false,
"transcript": "ENST00000471234.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 857,
"aa_ref": "R",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 3252,
"cds_end": null,
"cds_length": 2574,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000482320.5",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420089.1",
"strand": false,
"transcript": "ENST00000482320.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001382216.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369145.1",
"strand": false,
"transcript": "NM_001382216.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000471166.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418267.1",
"strand": false,
"transcript": "ENST00000471166.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2870,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000627585.2",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487231.1",
"strand": false,
"transcript": "ENST00000627585.2",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 3190,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382217.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369146.1",
"strand": false,
"transcript": "NM_001382217.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 3190,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000862647.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532706.1",
"strand": false,
"transcript": "ENST00000862647.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 3145,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2771,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000929007.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2771G>A",
"hgvs_p": "p.Arg924Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599066.1",
"strand": false,
"transcript": "ENST00000929007.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 3162,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862641.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532700.1",
"strand": false,
"transcript": "ENST00000862641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 923,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862649.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532708.1",
"strand": false,
"transcript": "ENST00000862649.1",
"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": 3427,
"cdna_start": 3113,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000929011.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599069.1",
"strand": false,
"transcript": "ENST00000929011.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 2918,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961761.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631820.1",
"strand": false,
"transcript": "ENST00000961761.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 921,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 2892,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2762,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862648.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532707.1",
"strand": false,
"transcript": "ENST00000862648.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3451,
"cdna_start": 3118,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2744,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862643.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2744G>A",
"hgvs_p": "p.Arg915Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532702.1",
"strand": false,
"transcript": "ENST00000862643.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2678,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862652.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532711.1",
"strand": false,
"transcript": "ENST00000862652.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 887,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001382219.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2660G>A",
"hgvs_p": "p.Arg887Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369148.1",
"strand": false,
"transcript": "NM_001382219.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 887,
"aa_ref": "R",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2785,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000862650.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2660G>A",
"hgvs_p": "p.Arg887Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532709.1",
"strand": false,
"transcript": "ENST00000862650.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 884,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000862651.1",
"gene_hgnc_id": 17103,
"gene_symbol": "TNPO3",
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532710.1",
"strand": false,
"transcript": "ENST00000862651.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 2993,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
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