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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: 22-17138585-GCC-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17138585&ref=GCC&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HDHD5",
"hgnc_id": 1843,
"hgvs_c": "c.898_900delGGCinsTGT",
"hgvs_p": "p.Gly300Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_033070.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1272,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033070.3",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.898_900delGGCinsTGT",
"hgvs_p": "p.Gly300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336737.8",
"protein_coding": true,
"protein_id": "NP_149061.1",
"strand": false,
"transcript": "NM_033070.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1272,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336737.8",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.898_900delGGCinsTGT",
"hgvs_p": "p.Gly300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033070.3",
"protein_coding": true,
"protein_id": "ENSP00000337358.4",
"strand": false,
"transcript": "ENST00000336737.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 393,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1182,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000155674.9",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.808_810delGGCinsTGT",
"hgvs_p": "p.Gly270Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000155674.5",
"strand": false,
"transcript": "ENST00000155674.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000477157.5",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "n.2741_2743delGGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000477157.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 451,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1356,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895143.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.982_984delGGCinsTGT",
"hgvs_p": "p.Gly328Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565202.1",
"strand": false,
"transcript": "ENST00000895143.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 450,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1353,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930004.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.979_981delGGCinsTGT",
"hgvs_p": "p.Gly327Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600063.1",
"strand": false,
"transcript": "ENST00000930004.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 438,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1317,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895145.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.898_900delGGCinsTGT",
"hgvs_p": "p.Gly300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565204.1",
"strand": false,
"transcript": "ENST00000895145.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1305,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930008.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.931_933delGGCinsTGT",
"hgvs_p": "p.Gly311Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600067.1",
"strand": false,
"transcript": "ENST00000930008.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 421,
"aa_ref": "G",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1266,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930003.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.892_894delGGCinsTGT",
"hgvs_p": "p.Gly298Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600062.1",
"strand": false,
"transcript": "ENST00000930003.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1257,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895142.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.883_885delGGCinsTGT",
"hgvs_p": "p.Gly295Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565201.1",
"strand": false,
"transcript": "ENST00000895142.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 401,
"aa_ref": "G",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1206,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969828.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.832_834delGGCinsTGT",
"hgvs_p": "p.Gly278Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639887.1",
"strand": false,
"transcript": "ENST00000969828.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 393,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1182,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017829.6",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.808_810delGGCinsTGT",
"hgvs_p": "p.Gly270Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060299.4",
"strand": false,
"transcript": "NM_017829.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 383,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1152,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895146.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.778_780delGGCinsTGT",
"hgvs_p": "p.Gly260Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565205.1",
"strand": false,
"transcript": "ENST00000895146.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 380,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1143,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895148.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.769_771delGGCinsTGT",
"hgvs_p": "p.Gly257Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565207.1",
"strand": false,
"transcript": "ENST00000895148.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1068,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895144.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.694_696delGGCinsTGT",
"hgvs_p": "p.Gly232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565203.1",
"strand": false,
"transcript": "ENST00000895144.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 353,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1062,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930006.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.688_690delGGCinsTGT",
"hgvs_p": "p.Gly230Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600065.1",
"strand": false,
"transcript": "ENST00000930006.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 350,
"aa_ref": "G",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1053,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895147.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.679_681delGGCinsTGT",
"hgvs_p": "p.Gly227Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565206.1",
"strand": false,
"transcript": "ENST00000895147.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 286,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1385,
"cdna_start": 515,
"cds_end": null,
"cds_length": 861,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930009.1",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.487_489delGGCinsTGT",
"hgvs_p": "p.Gly163Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600068.1",
"strand": false,
"transcript": "ENST00000930009.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1068,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011546126.4",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.694_696delGGCinsTGT",
"hgvs_p": "p.Gly232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544428.1",
"strand": false,
"transcript": "XM_011546126.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 301,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 906,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011546127.2",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
"hgvs_c": "c.532_534delGGCinsTGT",
"hgvs_p": "p.Gly178Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544429.1",
"strand": false,
"transcript": "XM_011546127.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 262,
"aa_ref": "G",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 599,
"cds_end": null,
"cds_length": 789,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005261236.5",
"gene_hgnc_id": 1843,
"gene_symbol": "HDHD5",
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