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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: 11-65130692-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65130692&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65130692,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_172230.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "NM_172230.3",
"protein_id": "NP_757385.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377190.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172230.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000377190.8",
"protein_id": "ENSP00000366395.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172230.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377190.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000294256.12",
"protein_id": "ENSP00000294256.8",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294256.12"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.His307Pro",
"transcript": "ENST00000307289.10",
"protein_id": "ENSP00000302035.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 565,
"cds_start": 920,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307289.10"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904693.1",
"protein_id": "ENSP00000574752.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 622,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904693.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904692.1",
"protein_id": "ENSP00000574751.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 621,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904692.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904688.1",
"protein_id": "ENSP00000574747.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904688.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904689.1",
"protein_id": "ENSP00000574748.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904689.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904690.1",
"protein_id": "ENSP00000574749.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904690.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904704.1",
"protein_id": "ENSP00000574763.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 617,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904704.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "NM_032431.3",
"protein_id": "NP_115807.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032431.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000526060.5",
"protein_id": "ENSP00000436984.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526060.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904691.1",
"protein_id": "ENSP00000574750.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904691.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904697.1",
"protein_id": "ENSP00000574756.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 616,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904697.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904694.1",
"protein_id": "ENSP00000574753.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 613,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904694.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.His353Pro",
"transcript": "ENST00000904701.1",
"protein_id": "ENSP00000574760.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 612,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904701.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904702.1",
"protein_id": "ENSP00000574761.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 609,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904702.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904695.1",
"protein_id": "ENSP00000574754.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 607,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904695.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904700.1",
"protein_id": "ENSP00000574759.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 606,
"cds_start": 1073,
"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": "ENST00000904700.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1073A>C",
"hgvs_p": "p.His358Pro",
"transcript": "ENST00000904703.1",
"protein_id": "ENSP00000574762.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 605,
"cds_start": 1073,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904703.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1031A>C",
"hgvs_p": "p.His344Pro",
"transcript": "ENST00000904705.1",
"protein_id": "ENSP00000574764.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 602,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904705.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYVN1",
"gene_hgnc_id": 20738,
"hgvs_c": "c.1007A>C",
"hgvs_p": "p.His336Pro",
"transcript": "ENST00000904698.1",
"protein_id": "ENSP00000574757.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 595,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"mitotip_score": null,
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_172230.3",
"gene_symbol": "SYVN1",
"hgnc_id": 20738,
"effects": [
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],
"inheritance_mode": "Unknown",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}