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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: 11-70486333-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70486333&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70486333,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001441024.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3960C>T",
"hgvs_p": "p.Asp1320Asp",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3960,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012309.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3960C>T",
"hgvs_p": "p.Asp1320Asp",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3960,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601538.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2172C>T",
"hgvs_p": "p.Asp724Asp",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409161.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4080C>T",
"hgvs_p": "p.Asp1360Asp",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1889,
"cds_start": 4080,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441024.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441025.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441026.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441027.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441028.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441029.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441030.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441031.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441032.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441033.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441034.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "ENST00000916035.1",
"protein_id": "ENSP00000586094.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916035.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "ENST00000916037.1",
"protein_id": "ENSP00000586096.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916037.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Asp1303Asp",
"transcript": "ENST00000916038.1",
"protein_id": "ENSP00000586097.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1832,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916038.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Asp1294Asp",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441035.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Asp1294Asp",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441036.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Asp1294Asp",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441037.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Asp1294Asp",
"transcript": "ENST00000916036.1",
"protein_id": "ENSP00000586095.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916036.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3837C>T",
"hgvs_p": "p.Asp1279Asp",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1808,
"cds_start": 3837,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001441024.1",
"gene_symbol": "SHANK2",
"hgnc_id": 14295,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4080C>T",
"hgvs_p": "p.Asp1360Asp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}