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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: 11-70472874-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70472874&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SHANK2",
"hgnc_id": 14295,
"hgvs_c": "c.5665A>T",
"hgvs_p": "p.Arg1889*",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001441024.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "R",
"aa_start": 1849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10830,
"cdna_start": 5810,
"cds_end": null,
"cds_length": 5550,
"cds_start": 5545,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_012309.5",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5545A>T",
"hgvs_p": "p.Arg1849*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000601538.6",
"protein_coding": true,
"protein_id": "NP_036441.2",
"strand": false,
"transcript": "NM_012309.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "R",
"aa_start": 1849,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10830,
"cdna_start": 5810,
"cds_end": null,
"cds_length": 5550,
"cds_start": 5545,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000601538.6",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5545A>T",
"hgvs_p": "p.Arg1849*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012309.5",
"protein_coding": true,
"protein_id": "ENSP00000469689.2",
"strand": false,
"transcript": "ENST00000601538.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9208,
"cdna_start": 4190,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3757,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409161.5",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.3757A>T",
"hgvs_p": "p.Arg1253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386491.1",
"strand": false,
"transcript": "ENST00000409161.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1889,
"aa_ref": "R",
"aa_start": 1889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10950,
"cdna_start": 5930,
"cds_end": null,
"cds_length": 5670,
"cds_start": 5665,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001441024.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5665A>T",
"hgvs_p": "p.Arg1889*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427953.1",
"strand": false,
"transcript": "NM_001441024.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10779,
"cdna_start": 5759,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441025.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427954.1",
"strand": false,
"transcript": "NM_001441025.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10906,
"cdna_start": 5886,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001441026.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427955.1",
"strand": false,
"transcript": "NM_001441026.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11039,
"cdna_start": 6019,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001441027.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427956.1",
"strand": false,
"transcript": "NM_001441027.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10903,
"cdna_start": 5883,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441028.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427957.1",
"strand": false,
"transcript": "NM_001441028.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10912,
"cdna_start": 5892,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001441029.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427958.1",
"strand": false,
"transcript": "NM_001441029.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10826,
"cdna_start": 5806,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441030.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427959.1",
"strand": false,
"transcript": "NM_001441030.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11085,
"cdna_start": 6065,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441031.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427960.1",
"strand": false,
"transcript": "NM_001441031.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10710,
"cdna_start": 5690,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441032.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427961.1",
"strand": false,
"transcript": "NM_001441032.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11036,
"cdna_start": 6016,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001441033.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427962.1",
"strand": false,
"transcript": "NM_001441033.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10679,
"cdna_start": 5659,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001441034.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427963.1",
"strand": false,
"transcript": "NM_001441034.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11095,
"cdna_start": 6026,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000916035.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586094.1",
"strand": false,
"transcript": "ENST00000916035.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9249,
"cdna_start": 5808,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000916037.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586096.1",
"strand": false,
"transcript": "ENST00000916037.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "R",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9699,
"cdna_start": 6261,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5494,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000916038.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5494A>T",
"hgvs_p": "p.Arg1832*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586097.1",
"strand": false,
"transcript": "ENST00000916038.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "R",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10752,
"cdna_start": 5732,
"cds_end": null,
"cds_length": 5472,
"cds_start": 5467,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001441035.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5467A>T",
"hgvs_p": "p.Arg1823*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427964.1",
"strand": false,
"transcript": "NM_001441035.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "R",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10879,
"cdna_start": 5859,
"cds_end": null,
"cds_length": 5472,
"cds_start": 5467,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001441036.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5467A>T",
"hgvs_p": "p.Arg1823*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427965.1",
"strand": false,
"transcript": "NM_001441036.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "R",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10652,
"cdna_start": 5632,
"cds_end": null,
"cds_length": 5472,
"cds_start": 5467,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001441037.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
"hgvs_c": "c.5467A>T",
"hgvs_p": "p.Arg1823*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427966.1",
"strand": false,
"transcript": "NM_001441037.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "R",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9157,
"cdna_start": 5716,
"cds_end": null,
"cds_length": 5472,
"cds_start": 5467,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000916036.1",
"gene_hgnc_id": 14295,
"gene_symbol": "SHANK2",
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