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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: 13-95586085-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95586085&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DZIP1",
"hgnc_id": 20908,
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_198968.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1178,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09482830762863159,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7491,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_198968.4",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376829.7",
"protein_coding": true,
"protein_id": "NP_945319.1",
"strand": false,
"transcript": "NM_198968.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7491,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000376829.7",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198968.4",
"protein_coding": true,
"protein_id": "ENSP00000366025.2",
"strand": false,
"transcript": "ENST00000376829.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7418,
"cdna_start": 3052,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000361396.6",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Arg738Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355175.2",
"strand": false,
"transcript": "ENST00000361396.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000926439.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2324G>T",
"hgvs_p": "p.Arg775Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596498.1",
"strand": false,
"transcript": "ENST00000926439.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000347108.7",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257312.5",
"strand": false,
"transcript": "ENST00000347108.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000897707.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567766.1",
"strand": false,
"transcript": "ENST00000897707.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": 3125,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000897709.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567768.1",
"strand": false,
"transcript": "ENST00000897709.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4509,
"cdna_start": 3057,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897710.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2270G>T",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567769.1",
"strand": false,
"transcript": "ENST00000897710.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2255,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000897703.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2255G>T",
"hgvs_p": "p.Arg752Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567762.1",
"strand": false,
"transcript": "ENST00000897703.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7434,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_014934.5",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Arg738Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055749.1",
"strand": false,
"transcript": "NM_014934.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7011,
"cdna_start": 2646,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000361156.7",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Arg738Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355018.3",
"strand": false,
"transcript": "ENST00000361156.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897705.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2210G>T",
"hgvs_p": "p.Arg737Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567764.1",
"strand": false,
"transcript": "ENST00000897705.1",
"transcript_support_level": null
},
{
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"aa_length": 847,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897706.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2210G>T",
"hgvs_p": "p.Arg737Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567765.1",
"strand": false,
"transcript": "ENST00000897706.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2210,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000897711.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2210G>T",
"hgvs_p": "p.Arg737Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567770.1",
"strand": false,
"transcript": "ENST00000897711.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 842,
"aa_ref": "R",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000947291.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2195G>T",
"hgvs_p": "p.Arg732Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617350.1",
"strand": false,
"transcript": "ENST00000947291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 829,
"aa_ref": "R",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 3011,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2156,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000897708.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2156G>T",
"hgvs_p": "p.Arg719Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567767.1",
"strand": false,
"transcript": "ENST00000897708.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3620,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 2487,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000897712.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2153G>T",
"hgvs_p": "p.Arg718Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567771.1",
"strand": false,
"transcript": "ENST00000897712.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 821,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897704.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2132G>T",
"hgvs_p": "p.Arg711Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567763.1",
"strand": false,
"transcript": "ENST00000897704.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 821,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000926437.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2132G>T",
"hgvs_p": "p.Arg711Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596496.1",
"strand": false,
"transcript": "ENST00000926437.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5125,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000947292.1",
"gene_hgnc_id": 20908,
"gene_symbol": "DZIP1",
"hgvs_c": "c.2117G>T",
"hgvs_p": "p.Arg706Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617351.1",
"strand": false,
"transcript": "ENST00000947292.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "R",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
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