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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: 4-155353220-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155353220&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155353220,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001039580.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "NM_001039580.2",
"protein_id": "NP_001034669.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": "ENST00000311277.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039580.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "ENST00000311277.9",
"protein_id": "ENSP00000310593.4",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": "NM_001039580.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311277.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "ENST00000650955.1",
"protein_id": "ENSP00000498412.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 7113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650955.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "ENST00000933329.1",
"protein_id": "ENSP00000603388.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933329.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "ENST00000933332.1",
"protein_id": "ENSP00000603390.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933332.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Thr500Ala",
"transcript": "ENST00000933327.1",
"protein_id": "ENSP00000603386.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 646,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933327.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Thr500Ala",
"transcript": "ENST00000933330.1",
"protein_id": "ENSP00000603389.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 646,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933330.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Thr477Ala",
"transcript": "ENST00000515654.5",
"protein_id": "ENSP00000427402.1",
"transcript_support_level": 5,
"aa_start": 477,
"aa_end": null,
"aa_length": 623,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515654.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Thr391Ala",
"transcript": "ENST00000933328.1",
"protein_id": "ENSP00000603387.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 537,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 7021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933328.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "XM_011532253.2",
"protein_id": "XP_011530555.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532253.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Thr501Ala",
"transcript": "XM_011532254.2",
"protein_id": "XP_011530556.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 647,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532254.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Thr500Ala",
"transcript": "XM_017008616.2",
"protein_id": "XP_016864105.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 646,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008616.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Thr500Ala",
"transcript": "XM_017008617.2",
"protein_id": "XP_016864106.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 646,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008617.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "c.1285A>G",
"hgvs_p": "p.Thr429Ala",
"transcript": "XM_011532255.4",
"protein_id": "XP_011530557.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 575,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532255.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "n.*201A>G",
"hgvs_p": null,
"transcript": "ENST00000424373.5",
"protein_id": "ENSP00000413553.1",
"transcript_support_level": 2,
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP9",
"gene_hgnc_id": 26118,
"hgvs_c": "n.*201A>G",
"hgvs_p": null,
"transcript": "ENST00000424373.5",
"protein_id": "ENSP00000413553.1",
"transcript_support_level": 2,
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.137-989T>C",
"hgvs_p": null,
"transcript": "ENST00000417474.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417474.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.559+866T>C",
"hgvs_p": null,
"transcript": "ENST00000593387.6",
"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": 838,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000593387.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.162-3869T>C",
"hgvs_p": null,
"transcript": "ENST00000597831.6",
"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": 775,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597831.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.540-989T>C",
"hgvs_p": null,
"transcript": "ENST00000597939.5",
"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": 705,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597939.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.450-989T>C",
"hgvs_p": null,
"transcript": "ENST00000598252.5",
"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": 790,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000598252.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP9-AS1",
"gene_hgnc_id": 56110,
"hgvs_c": "n.162-989T>C",
"hgvs_p": null,
"transcript": "ENST00000598890.6",
"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": 868,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000598890.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}