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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: 17-65689178-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65689178&ref=C&alt=T&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": "CEP112",
"hgnc_id": 28514,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884Gln",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001353129.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.0913,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17606306076049805,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001199165.4",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000535342.7",
"protein_coding": true,
"protein_id": "NP_001186094.1",
"strand": false,
"transcript": "NM_001199165.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000535342.7",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001199165.4",
"protein_coding": true,
"protein_id": "ENSP00000442784.2",
"strand": false,
"transcript": "ENST00000535342.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000537949.5",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440775.1",
"strand": false,
"transcript": "ENST00000537949.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 660,
"cds_end": null,
"cds_length": 636,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000317442.12",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320592.5",
"strand": false,
"transcript": "ENST00000317442.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 3010,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2747,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000859226.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2747G>A",
"hgvs_p": "p.Arg916Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529285.1",
"strand": false,
"transcript": "ENST00000859226.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001353129.2",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"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": "NP_001340058.1",
"strand": false,
"transcript": "NM_001353129.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000859224.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"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": "ENSP00000529283.1",
"strand": false,
"transcript": "ENST00000859224.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2976,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000859225.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"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": "ENSP00000529284.1",
"strand": false,
"transcript": "ENST00000859225.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 2883,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000952586.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"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": "ENSP00000622645.1",
"strand": false,
"transcript": "ENST00000952586.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001353127.2",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340056.1",
"strand": false,
"transcript": "NM_001353127.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000392769.6",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376522.2",
"strand": false,
"transcript": "ENST00000392769.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000932263.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602322.1",
"strand": false,
"transcript": "ENST00000932263.1",
"transcript_support_level": null
},
{
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"aa_length": 955,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000952582.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622641.1",
"strand": false,
"transcript": "ENST00000952582.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 954,
"aa_ref": "R",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000952577.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2645G>A",
"hgvs_p": "p.Arg882Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622636.1",
"strand": false,
"transcript": "ENST00000952577.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 954,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000952584.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2645G>A",
"hgvs_p": "p.Arg882Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622643.1",
"strand": false,
"transcript": "ENST00000952584.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2588,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000952581.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2588G>A",
"hgvs_p": "p.Arg863Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622640.1",
"strand": false,
"transcript": "ENST00000952581.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2670,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2588,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000952583.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2588G>A",
"hgvs_p": "p.Arg863Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622642.1",
"strand": false,
"transcript": "ENST00000952583.1",
"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": 3351,
"cdna_start": 2701,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000952579.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622638.1",
"strand": false,
"transcript": "ENST00000952579.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 922,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000859227.1",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"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": "ENSP00000529286.1",
"strand": false,
"transcript": "ENST00000859227.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001302891.3",
"gene_hgnc_id": 28514,
"gene_symbol": "CEP112",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289820.1",
"strand": false,
"transcript": "NM_001302891.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 2667,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353128.2",
"gene_hgnc_id": 28514,
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