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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: 11-59755615-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59755615&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59755615,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004177.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_004177.5",
"protein_id": "NP_004168.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337979.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004177.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000337979.9",
"protein_id": "ENSP00000338562.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004177.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337979.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440522.1",
"protein_id": "NP_001427451.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440522.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440523.1",
"protein_id": "NP_001427452.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440523.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440524.1",
"protein_id": "NP_001427453.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440524.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440525.1",
"protein_id": "NP_001427454.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440525.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000530221.2",
"protein_id": "ENSP00000434836.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530221.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000887353.1",
"protein_id": "ENSP00000557412.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887353.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000887354.1",
"protein_id": "ENSP00000557413.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887354.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000887356.1",
"protein_id": "ENSP00000557415.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887356.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000928727.1",
"protein_id": "ENSP00000598786.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928727.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000928728.1",
"protein_id": "ENSP00000598787.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928728.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000955060.1",
"protein_id": "ENSP00000625119.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 289,
"cds_start": 10,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955060.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440526.1",
"protein_id": "NP_001427455.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 10,
"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": "NM_001440526.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440527.1",
"protein_id": "NP_001427456.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 10,
"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": "NM_001440527.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440528.1",
"protein_id": "NP_001427457.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 10,
"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": "NM_001440528.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440529.1",
"protein_id": "NP_001427458.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 10,
"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": "NM_001440529.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000633708.1",
"protein_id": "ENSP00000487790.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 287,
"cds_start": 10,
"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": "ENST00000633708.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001440530.1",
"protein_id": "NP_001427459.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 282,
"cds_start": 10,
"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": "NM_001440530.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "NM_001178040.3",
"protein_id": "NP_001171511.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 277,
"cds_start": 10,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178040.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000529177.5",
"protein_id": "ENSP00000433248.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 277,
"cds_start": 10,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529177.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Arg4Ser",
"transcript": "ENST00000887355.1",
"protein_id": "ENSP00000557414.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 264,
"cds_start": 10,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887355.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 1,
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"acmg_by_gene": [
{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}