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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: 2-199349012-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=199349012&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SATB2",
"hgnc_id": 21637,
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_015265.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0726,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.055148184299468994,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172509.2",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417098.6",
"protein_coding": true,
"protein_id": "NP_001165980.1",
"strand": false,
"transcript": "NM_001172509.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000417098.6",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001172509.2",
"protein_coding": true,
"protein_id": "ENSP00000401112.1",
"strand": false,
"transcript": "ENST00000417098.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000260926.9",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000260926.5",
"strand": false,
"transcript": "ENST00000260926.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 615,
"aa_ref": "A",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1848,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000428695.6",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.508G>T",
"hgvs_p": "p.Ala170Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388581.1",
"strand": false,
"transcript": "ENST00000428695.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172517.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165988.1",
"strand": false,
"transcript": "NM_001172517.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5301,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015265.4",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056080.1",
"strand": false,
"transcript": "NM_015265.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000457245.5",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405420.1",
"strand": false,
"transcript": "ENST00000457245.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700193.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514854.1",
"strand": false,
"transcript": "ENST00000700193.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5149,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908772.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578831.1",
"strand": false,
"transcript": "ENST00000908772.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5424,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908773.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578832.1",
"strand": false,
"transcript": "ENST00000908773.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908774.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578833.1",
"strand": false,
"transcript": "ENST00000908774.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908775.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578834.1",
"strand": false,
"transcript": "ENST00000908775.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 733,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5425,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908777.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578836.1",
"strand": false,
"transcript": "ENST00000908777.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908778.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578837.1",
"strand": false,
"transcript": "ENST00000908778.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908779.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578838.1",
"strand": false,
"transcript": "ENST00000908779.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908780.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578839.1",
"strand": false,
"transcript": "ENST00000908780.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908781.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578840.1",
"strand": false,
"transcript": "ENST00000908781.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 733,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5165,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908782.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578841.1",
"strand": false,
"transcript": "ENST00000908782.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5536,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930191.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600250.1",
"strand": false,
"transcript": "ENST00000930191.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5593,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930192.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600251.1",
"strand": false,
"transcript": "ENST00000930192.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2202,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962920.1",
"gene_hgnc_id": 21637,
"gene_symbol": "SATB2",
"hgvs_c": "c.862G>T",
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