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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: 19-4099306-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4099306&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4099306,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030662.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "NM_030662.4",
"protein_id": "NP_109587.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 400,
"cds_start": 814,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262948.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030662.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000262948.10",
"protein_id": "ENSP00000262948.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 400,
"cds_start": 814,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030662.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262948.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000945862.1",
"protein_id": "ENSP00000615921.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 463,
"cds_start": 814,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945862.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000897166.1",
"protein_id": "ENSP00000567225.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 453,
"cds_start": 814,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897166.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Ala322Pro",
"transcript": "ENST00000897161.1",
"protein_id": "ENSP00000567220.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 450,
"cds_start": 964,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897161.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000945861.1",
"protein_id": "ENSP00000615920.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 447,
"cds_start": 814,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945861.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"transcript": "ENST00000945859.1",
"protein_id": "ENSP00000615918.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 427,
"cds_start": 895,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945859.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Ala291Pro",
"transcript": "ENST00000897160.1",
"protein_id": "ENSP00000567219.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897160.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Ala285Pro",
"transcript": "ENST00000920059.1",
"protein_id": "ENSP00000590118.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 413,
"cds_start": 853,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920059.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.799G>C",
"hgvs_p": "p.Ala267Pro",
"transcript": "ENST00000920057.1",
"protein_id": "ENSP00000590116.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 395,
"cds_start": 799,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920057.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro",
"transcript": "ENST00000897162.1",
"protein_id": "ENSP00000567221.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 388,
"cds_start": 778,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897162.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000920058.1",
"protein_id": "ENSP00000590117.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 385,
"cds_start": 814,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920058.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Ala251Pro",
"transcript": "ENST00000897163.1",
"protein_id": "ENSP00000567222.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 379,
"cds_start": 751,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897163.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Ala272Pro",
"transcript": "ENST00000897164.1",
"protein_id": "ENSP00000567223.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 364,
"cds_start": 814,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897164.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000897165.1",
"protein_id": "ENSP00000567224.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 351,
"cds_start": 667,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897165.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"transcript": "NM_001440689.1",
"protein_id": "NP_001427618.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 210,
"cds_start": 244,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.705+1713G>C",
"hgvs_p": null,
"transcript": "NM_001440688.1",
"protein_id": "NP_001427617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.642+1776G>C",
"hgvs_p": null,
"transcript": "ENST00000945860.1",
"protein_id": "ENSP00000615919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.28+1713G>C",
"hgvs_p": null,
"transcript": "ENST00000599021.1",
"protein_id": "ENSP00000471763.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.1253G>C",
"hgvs_p": null,
"transcript": "ENST00000394867.9",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000394867.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.761G>C",
"hgvs_p": null,
"transcript": "ENST00000593364.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000593364.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.629G>C",
"hgvs_p": null,
"transcript": "ENST00000595715.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000595715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}