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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: 18-50715168-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50715168&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PVS1_Supporting",
"BS2"
],
"effects": [
"start_lost"
],
"gene_symbol": "MAPK4",
"hgnc_id": 6878,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001292039.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PVS1_Supporting,BS2",
"acmg_score": -3,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.8251,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7394325733184814,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002747.4",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400384.7",
"protein_coding": true,
"protein_id": "NP_002738.2",
"strand": true,
"transcript": "NM_002747.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000400384.7",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002747.4",
"protein_coding": true,
"protein_id": "ENSP00000383234.1",
"strand": true,
"transcript": "ENST00000400384.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 233,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4330,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 702,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592595.5",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466233.1",
"strand": true,
"transcript": "ENST00000592595.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 376,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1131,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001292039.2",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278968.1",
"strand": true,
"transcript": "NM_001292039.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 376,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 201,
"cds_end": null,
"cds_length": 1131,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000540640.3",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439231.1",
"strand": true,
"transcript": "ENST00000540640.3",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903334.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573394.1",
"strand": true,
"transcript": "ENST00000903334.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903337.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573397.1",
"strand": true,
"transcript": "ENST00000903337.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4902,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903340.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573399.1",
"strand": true,
"transcript": "ENST00000903340.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903342.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573401.1",
"strand": true,
"transcript": "ENST00000903342.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4827,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903345.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573404.1",
"strand": true,
"transcript": "ENST00000903345.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903347.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573406.1",
"strand": true,
"transcript": "ENST00000903347.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942366.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612425.1",
"strand": true,
"transcript": "ENST00000942366.1",
"transcript_support_level": null
},
{
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"aa_length": 587,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942367.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612426.1",
"strand": true,
"transcript": "ENST00000942367.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1602,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903348.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573407.1",
"strand": true,
"transcript": "ENST00000903348.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 233,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 702,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001292040.2",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278969.1",
"strand": true,
"transcript": "NM_001292040.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005258299.4",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258356.1",
"strand": true,
"transcript": "XM_005258299.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011526074.3",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524376.1",
"strand": true,
"transcript": "XM_011526074.3",
"transcript_support_level": null
},
{
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"aa_length": 587,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011526075.4",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524377.1",
"strand": true,
"transcript": "XM_011526075.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011526076.3",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524378.1",
"strand": true,
"transcript": "XM_011526076.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017025839.3",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881328.1",
"strand": true,
"transcript": "XM_017025839.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "M",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 1764,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437625.1",
"gene_hgnc_id": 6878,
"gene_symbol": "MAPK4",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Met212Ile",
"intron_rank": null,
"intron_rank_end": null,
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{
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]
}