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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: 19-422285-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=422285&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SHC2",
"hgnc_id": 29869,
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_012435.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9918,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9923454523086548,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_012435.3",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264554.11",
"protein_coding": true,
"protein_id": "NP_036567.2",
"strand": false,
"transcript": "NM_012435.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000264554.11",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012435.3",
"protein_coding": true,
"protein_id": "ENSP00000264554.4",
"strand": false,
"transcript": "ENST00000264554.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000588376.5",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "n.544G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588376.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945174.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1559G>T",
"hgvs_p": "p.Arg520Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615233.1",
"strand": false,
"transcript": "ENST00000945174.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 607,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945166.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1556G>T",
"hgvs_p": "p.Arg519Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615225.1",
"strand": false,
"transcript": "ENST00000945166.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1529,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945164.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Arg510Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615223.1",
"strand": false,
"transcript": "ENST00000945164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945167.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1508G>T",
"hgvs_p": "p.Arg503Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615226.1",
"strand": false,
"transcript": "ENST00000945167.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945169.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615228.1",
"strand": false,
"transcript": "ENST00000945169.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945175.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615234.1",
"strand": false,
"transcript": "ENST00000945175.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945172.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615231.1",
"strand": false,
"transcript": "ENST00000945172.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945165.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1448G>T",
"hgvs_p": "p.Arg483Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615224.1",
"strand": false,
"transcript": "ENST00000945165.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945171.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1427G>T",
"hgvs_p": "p.Arg476Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615230.1",
"strand": false,
"transcript": "ENST00000945171.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945170.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Arg474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615229.1",
"strand": false,
"transcript": "ENST00000945170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387056.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373985.1",
"strand": false,
"transcript": "NM_001387056.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939515.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609574.1",
"strand": false,
"transcript": "ENST00000939515.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945168.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1091G>T",
"hgvs_p": "p.Arg364Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615227.1",
"strand": false,
"transcript": "ENST00000945168.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1212,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945173.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Arg315Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615232.1",
"strand": false,
"transcript": "ENST00000945173.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011527893.4",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1481G>T",
"hgvs_p": "p.Arg494Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526195.1",
"strand": false,
"transcript": "XM_011527893.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011527894.3",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526196.1",
"strand": false,
"transcript": "XM_011527894.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011527896.3",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1010G>T",
"hgvs_p": "p.Arg337Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526198.1",
"strand": false,
"transcript": "XM_011527896.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438565.1",
"gene_hgnc_id": 29869,
"gene_symbol": "SHC2",
"hgvs_c": "c.1010G>T",
"hgvs_p": "p.Arg337Leu",
"intron_rank": null,
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},
{
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],
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{
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],
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs757440052",
"effect": "missense_variant",
"frequency_reference_population": 6.850038e-7,
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"gene_symbol": "SHC2",
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
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"pos": 422285,
"ref": "C",
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"splice_source_selected": "max_spliceai",
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}
]
}