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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: 17-7390432-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7390432&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7390432,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020360.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "NM_020360.4",
"protein_id": "NP_065093.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619711.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020360.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000619711.5",
"protein_id": "ENSP00000483743.2",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020360.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619711.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000324822.15",
"protein_id": "ENSP00000316021.11",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324822.15"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000574401.5",
"protein_id": "ENSP00000459019.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574401.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000576201.5",
"protein_id": "ENSP00000459419.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576201.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM256-PLSCR3",
"gene_hgnc_id": 49186,
"hgvs_c": "n.*1639T>C",
"hgvs_p": null,
"transcript": "ENST00000573331.5",
"protein_id": "ENSP00000466104.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573331.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM256-PLSCR3",
"gene_hgnc_id": 49186,
"hgvs_c": "n.*1639T>C",
"hgvs_p": null,
"transcript": "ENST00000573331.5",
"protein_id": "ENSP00000466104.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573331.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "NM_001201576.2",
"protein_id": "NP_001188505.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201576.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "NM_001369407.1",
"protein_id": "NP_001356336.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369407.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000899108.1",
"protein_id": "ENSP00000569167.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899108.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000937906.1",
"protein_id": "ENSP00000607965.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937906.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000937907.1",
"protein_id": "ENSP00000607966.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937907.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000955900.1",
"protein_id": "ENSP00000625959.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955900.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu",
"transcript": "ENST00000955901.1",
"protein_id": "ENSP00000625960.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 841,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955901.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"transcript": "ENST00000899106.1",
"protein_id": "ENSP00000569165.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 292,
"cds_start": 832,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899106.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"transcript": "ENST00000899110.1",
"protein_id": "ENSP00000569169.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 292,
"cds_start": 832,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899110.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.805T>C",
"hgvs_p": "p.Phe269Leu",
"transcript": "ENST00000899112.1",
"protein_id": "ENSP00000569171.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 283,
"cds_start": 805,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899112.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.778T>C",
"hgvs_p": "p.Phe260Leu",
"transcript": "ENST00000899102.1",
"protein_id": "ENSP00000569161.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 778,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899102.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.778T>C",
"hgvs_p": "p.Phe260Leu",
"transcript": "ENST00000899109.1",
"protein_id": "ENSP00000569168.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 778,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899109.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.778T>C",
"hgvs_p": "p.Phe260Leu",
"transcript": "ENST00000899113.1",
"protein_id": "ENSP00000569172.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 778,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899113.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.769T>C",
"hgvs_p": "p.Phe257Leu",
"transcript": "ENST00000576362.5",
"protein_id": "ENSP00000460800.1",
"transcript_support_level": 3,
"aa_start": 257,
"aa_end": null,
"aa_length": 271,
"cds_start": 769,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576362.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"hgvs_c": "c.769T>C",
"hgvs_p": "p.Phe257Leu",
"transcript": "ENST00000899099.1",
"protein_id": "ENSP00000569158.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 271,
"cds_start": 769,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571078.5"
}
],
"gene_symbol": "PLSCR3",
"gene_hgnc_id": 16495,
"dbsnp": "rs575594227",
"frequency_reference_population": 0.0000012667608,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.00999e-7,
"gnomad_genomes_af": 0.00000656625,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8088887929916382,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.942,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020360.4",
"gene_symbol": "PLSCR3",
"hgnc_id": 16495,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Phe281Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000573331.5",
"gene_symbol": "TMEM256-PLSCR3",
"hgnc_id": 49186,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1639T>C",
"hgvs_p": null
}
],
"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
}