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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: 17-66214515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=66214515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 66214515,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000042.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Cys307Tyr",
"transcript": "NM_000042.3",
"protein_id": "NP_000033.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000205948.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000042.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Cys307Tyr",
"transcript": "ENST00000205948.11",
"protein_id": "ENSP00000205948.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000042.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205948.11"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Cys307Tyr",
"transcript": "ENST00000879124.1",
"protein_id": "ENSP00000549183.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879124.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Cys306Tyr",
"transcript": "ENST00000879112.1",
"protein_id": "ENSP00000549171.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 344,
"cds_start": 917,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879112.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Cys305Tyr",
"transcript": "ENST00000879110.1",
"protein_id": "ENSP00000549169.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 343,
"cds_start": 914,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879110.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.905G>A",
"hgvs_p": "p.Cys302Tyr",
"transcript": "ENST00000879126.1",
"protein_id": "ENSP00000549185.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 340,
"cds_start": 905,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879126.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Cys297Tyr",
"transcript": "ENST00000879125.1",
"protein_id": "ENSP00000549184.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 335,
"cds_start": 890,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879125.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Cys295Tyr",
"transcript": "ENST00000879109.1",
"protein_id": "ENSP00000549168.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 333,
"cds_start": 884,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879109.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Cys293Tyr",
"transcript": "ENST00000879127.1",
"protein_id": "ENSP00000549186.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 331,
"cds_start": 878,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879127.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Cys286Tyr",
"transcript": "ENST00000879118.1",
"protein_id": "ENSP00000549177.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 324,
"cds_start": 857,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879118.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Cys276Tyr",
"transcript": "ENST00000879117.1",
"protein_id": "ENSP00000549176.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 314,
"cds_start": 827,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879117.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Cys275Tyr",
"transcript": "ENST00000879120.1",
"protein_id": "ENSP00000549179.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 313,
"cds_start": 824,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879120.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Cys249Tyr",
"transcript": "ENST00000879119.1",
"protein_id": "ENSP00000549178.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 287,
"cds_start": 746,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879119.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Cys248Tyr",
"transcript": "ENST00000879111.1",
"protein_id": "ENSP00000549170.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 286,
"cds_start": 743,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879111.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Cys247Tyr",
"transcript": "ENST00000879115.1",
"protein_id": "ENSP00000549174.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 285,
"cds_start": 740,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879115.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Cys244Tyr",
"transcript": "ENST00000879113.1",
"protein_id": "ENSP00000549172.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879113.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Cys190Tyr",
"transcript": "ENST00000879116.1",
"protein_id": "ENSP00000549175.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 228,
"cds_start": 569,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879116.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Cys184Tyr",
"transcript": "ENST00000879122.1",
"protein_id": "ENSP00000549181.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 222,
"cds_start": 551,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879122.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Cys67Tyr",
"transcript": "ENST00000879123.1",
"protein_id": "ENSP00000549182.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 105,
"cds_start": 200,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.605-2327G>A",
"hgvs_p": null,
"transcript": "ENST00000879114.1",
"protein_id": "ENSP00000549173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.416-2327G>A",
"hgvs_p": null,
"transcript": "ENST00000879121.1",
"protein_id": "ENSP00000549180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"hgvs_c": "c.256+2273G>A",
"hgvs_p": null,
"transcript": "ENST00000585162.1",
"protein_id": "ENSP00000462260.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585162.1"
}
],
"gene_symbol": "APOH",
"gene_hgnc_id": 616,
"dbsnp": "rs765836638",
"frequency_reference_population": 0.000004104422,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410442,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9373482465744019,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9604,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.728,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000042.3",
"gene_symbol": "APOH",
"hgnc_id": 616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Cys307Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}