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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: 16-725129-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=725129&ref=T&alt=C&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": "CCDC78",
"hgnc_id": 14153,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001378030.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0936,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Congenital myopathy with internal nuclei and atypical cores",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10511988401412964,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 470,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1413,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378030.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345165.10",
"protein_coding": true,
"protein_id": "NP_001364959.1",
"strand": false,
"transcript": "NM_001378030.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 470,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1413,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000345165.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378030.1",
"protein_coding": true,
"protein_id": "ENSP00000316851.5",
"strand": false,
"transcript": "ENST00000345165.10",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 438,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1317,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000293889.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293889.6",
"strand": false,
"transcript": "ENST00000293889.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 482,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1449,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617092.1",
"strand": false,
"transcript": "ENST00000947033.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 480,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1443,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617091.1",
"strand": false,
"transcript": "ENST00000947032.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1389,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523092.1",
"strand": false,
"transcript": "ENST00000853033.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 459,
"aa_ref": "K",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1380,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Lys159Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523090.1",
"strand": false,
"transcript": "ENST00000853031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1338,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853036.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523095.1",
"strand": false,
"transcript": "ENST00000853036.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 438,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1317,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001031737.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026907.2",
"strand": false,
"transcript": "NM_001031737.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 428,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1287,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853035.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523094.1",
"strand": false,
"transcript": "ENST00000853035.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 414,
"aa_ref": "K",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1245,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.341A>G",
"hgvs_p": "p.Lys114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523091.1",
"strand": false,
"transcript": "ENST00000853032.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "K",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1233,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364960.1",
"strand": false,
"transcript": "NM_001378031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 410,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1233,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853034.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523093.1",
"strand": false,
"transcript": "ENST00000853034.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "K",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1920,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011522357.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520659.1",
"strand": false,
"transcript": "XM_011522357.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 628,
"aa_ref": "K",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1887,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011522360.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Lys304Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520662.1",
"strand": false,
"transcript": "XM_011522360.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 568,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1707,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006720838.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Lys244Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720901.1",
"strand": false,
"transcript": "XM_006720838.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 544,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1635,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047433602.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.731A>G",
"hgvs_p": "p.Lys244Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289558.1",
"strand": false,
"transcript": "XM_047433602.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 512,
"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 639,
"cds_end": null,
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"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011522368.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Lys188Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520670.1",
"strand": false,
"transcript": "XM_011522368.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1485,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006720843.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Lys170Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720906.1",
"strand": false,
"transcript": "XM_006720843.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 343,
"aa_ref": "K",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1032,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047433606.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Lys19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289562.1",
"strand": false,
"transcript": "XM_047433606.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 464,
"cds_end": null,
"cds_length": 846,
"cds_start": 147,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.147A>G",
"hgvs_p": "p.Glu49Glu",
"intron_rank": null,
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