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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: 17-66214460-GC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=66214460&ref=GC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "APOH",
"hgnc_id": 616,
"hgvs_c": "c.974_975delGCinsCA",
"hgvs_p": "p.Cys325Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000042.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "C",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1038,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000042.3",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.974_975delGCinsCA",
"hgvs_p": "p.Cys325Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000205948.11",
"protein_coding": true,
"protein_id": "NP_000033.2",
"strand": false,
"transcript": "NM_000042.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "C",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1038,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000205948.11",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.974_975delGCinsCA",
"hgvs_p": "p.Cys325Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000042.3",
"protein_coding": true,
"protein_id": "ENSP00000205948.6",
"strand": false,
"transcript": "ENST00000205948.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "C",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1159,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1038,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879124.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.974_975delGCinsCA",
"hgvs_p": "p.Cys325Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549183.1",
"strand": false,
"transcript": "ENST00000879124.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "C",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1035,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879112.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.971_972delGCinsCA",
"hgvs_p": "p.Cys324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549171.1",
"strand": false,
"transcript": "ENST00000879112.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 343,
"aa_ref": "C",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1032,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879110.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.968_969delGCinsCA",
"hgvs_p": "p.Cys323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549169.1",
"strand": false,
"transcript": "ENST00000879110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "C",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1023,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879126.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.959_960delGCinsCA",
"hgvs_p": "p.Cys320Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549185.1",
"strand": false,
"transcript": "ENST00000879126.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 335,
"aa_ref": "C",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1008,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879125.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.944_945delGCinsCA",
"hgvs_p": "p.Cys315Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549184.1",
"strand": false,
"transcript": "ENST00000879125.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 333,
"aa_ref": "C",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1002,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879109.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.938_939delGCinsCA",
"hgvs_p": "p.Cys313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549168.1",
"strand": false,
"transcript": "ENST00000879109.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "C",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": 950,
"cds_end": null,
"cds_length": 996,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879127.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.932_933delGCinsCA",
"hgvs_p": "p.Cys311Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549186.1",
"strand": false,
"transcript": "ENST00000879127.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 324,
"aa_ref": "C",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 955,
"cds_end": null,
"cds_length": 975,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879118.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.911_912delGCinsCA",
"hgvs_p": "p.Cys304Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549177.1",
"strand": false,
"transcript": "ENST00000879118.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "C",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1091,
"cdna_start": 925,
"cds_end": null,
"cds_length": 945,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879117.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.881_882delGCinsCA",
"hgvs_p": "p.Cys294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549176.1",
"strand": false,
"transcript": "ENST00000879117.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 313,
"aa_ref": "C",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": 917,
"cds_end": null,
"cds_length": 942,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879120.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.878_879delGCinsCA",
"hgvs_p": "p.Cys293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549179.1",
"strand": false,
"transcript": "ENST00000879120.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 287,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1003,
"cdna_start": 841,
"cds_end": null,
"cds_length": 864,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879119.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.800_801delGCinsCA",
"hgvs_p": "p.Cys267Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549178.1",
"strand": false,
"transcript": "ENST00000879119.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "C",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 908,
"cds_end": null,
"cds_length": 861,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879111.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.797_798delGCinsCA",
"hgvs_p": "p.Cys266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549170.1",
"strand": false,
"transcript": "ENST00000879111.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 285,
"aa_ref": "C",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1026,
"cdna_start": 860,
"cds_end": null,
"cds_length": 858,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879115.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.794_795delGCinsCA",
"hgvs_p": "p.Cys265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549174.1",
"strand": false,
"transcript": "ENST00000879115.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "C",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 884,
"cds_end": null,
"cds_length": 849,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879113.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.785_786delGCinsCA",
"hgvs_p": "p.Cys262Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549172.1",
"strand": false,
"transcript": "ENST00000879113.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 228,
"aa_ref": "C",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 689,
"cds_end": null,
"cds_length": 687,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879116.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.623_624delGCinsCA",
"hgvs_p": "p.Cys208Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549175.1",
"strand": false,
"transcript": "ENST00000879116.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "C",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": 640,
"cds_end": null,
"cds_length": 669,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879122.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.605_606delGCinsCA",
"hgvs_p": "p.Cys202Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549181.1",
"strand": false,
"transcript": "ENST00000879122.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 105,
"aa_ref": "C",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 449,
"cdna_start": 287,
"cds_end": null,
"cds_length": 318,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879123.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.254_255delGCinsCA",
"hgvs_p": "p.Cys85Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549182.1",
"strand": false,
"transcript": "ENST00000879123.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 839,
"cdna_start": null,
"cds_end": null,
"cds_length": 660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879114.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.605-2273_605-2272delGCinsCA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549173.1",
"strand": false,
"transcript": "ENST00000879114.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879121.1",
"gene_hgnc_id": 616,
"gene_symbol": "APOH",
"hgvs_c": "c.416-2273_416-2272delGCinsCA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549180.1",
"strand": false,
"transcript": "ENST00000879121.1",
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