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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: 19-4102451-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4102451&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"PP3",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MAP2K2",
"hgnc_id": 6842,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": -1,
"transcript": "NM_030662.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP3,BS2",
"acmg_score": -1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.9233,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "RASopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8279072046279907,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1203,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_030662.4",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262948.10",
"protein_coding": true,
"protein_id": "NP_109587.1",
"strand": false,
"transcript": "NM_030662.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1203,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262948.10",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030662.4",
"protein_coding": true,
"protein_id": "ENSP00000262948.4",
"strand": false,
"transcript": "ENST00000262948.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 463,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1392,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945862.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615921.1",
"strand": false,
"transcript": "ENST00000945862.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1362,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897166.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567225.1",
"strand": false,
"transcript": "ENST00000897166.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 450,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1353,
"cds_start": 603,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897161.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.603C>G",
"hgvs_p": "p.Asp201Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567220.1",
"strand": false,
"transcript": "ENST00000897161.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 447,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1344,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945861.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615920.1",
"strand": false,
"transcript": "ENST00000945861.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 427,
"aa_ref": "D",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1284,
"cds_start": 534,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945859.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.534C>G",
"hgvs_p": "p.Asp178Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615918.1",
"strand": false,
"transcript": "ENST00000945859.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 419,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1260,
"cds_start": 510,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897160.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Asp170Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567219.1",
"strand": false,
"transcript": "ENST00000897160.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 413,
"aa_ref": "D",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1242,
"cds_start": 492,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920059.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Asp164Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590118.1",
"strand": false,
"transcript": "ENST00000920059.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 395,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1188,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920057.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590116.1",
"strand": false,
"transcript": "ENST00000920057.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1167,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897162.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567221.1",
"strand": false,
"transcript": "ENST00000897162.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1158,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920058.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590117.1",
"strand": false,
"transcript": "ENST00000920058.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1140,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897163.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567222.1",
"strand": false,
"transcript": "ENST00000897163.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 364,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1095,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897164.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567223.1",
"strand": false,
"transcript": "ENST00000897164.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 351,
"aa_ref": "D",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1056,
"cds_start": 306,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897165.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.306C>G",
"hgvs_p": "p.Asp102Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567224.1",
"strand": false,
"transcript": "ENST00000897165.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 307,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 700,
"cds_end": null,
"cds_length": 924,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440688.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427617.1",
"strand": false,
"transcript": "NM_001440688.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 286,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 694,
"cds_end": null,
"cds_length": 861,
"cds_start": 453,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945860.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Asp151Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615919.1",
"strand": false,
"transcript": "ENST00000945860.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": null,
"cds_end": null,
"cds_length": 633,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440689.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.-118C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427618.1",
"strand": false,
"transcript": "NM_001440689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": null,
"cds_end": null,
"cds_length": 633,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440689.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.-118C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427618.1",
"strand": false,
"transcript": "NM_001440689.1",
"transcript_support_level": null
},
{
"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": 1899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000394867.9",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "n.892C>G",
"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": "ENST00000394867.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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}