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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: 15-66490572-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66490572&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Gly380Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_002755.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "SNAPC5",
"hgnc_id": 15484,
"hgvs_c": "c.*167C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_006049.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000261351",
"hgnc_id": null,
"hgvs_c": "n.254C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000565387.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2385,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34739041328430176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 393,
"aa_ref": "G",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002755.4",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Gly380Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307102.10",
"protein_coding": true,
"protein_id": "NP_002746.1",
"strand": true,
"transcript": "NM_002755.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 393,
"aa_ref": "G",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000307102.10",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Gly380Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002755.4",
"protein_coding": true,
"protein_id": "ENSP00000302486.5",
"strand": true,
"transcript": "ENST00000307102.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000565387.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261351",
"hgvs_c": "n.254C>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": "ENST00000565387.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 417,
"aa_ref": "A",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000685172.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Ala365Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509604.1",
"strand": true,
"transcript": "ENST00000685172.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 410,
"aa_ref": "G",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000689951.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Gly397Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509308.1",
"strand": true,
"transcript": "ENST00000689951.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 371,
"aa_ref": "G",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000692683.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508437.1",
"strand": true,
"transcript": "ENST00000692683.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 367,
"aa_ref": "G",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000901531.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571590.1",
"strand": true,
"transcript": "ENST00000901531.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1068,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000901534.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Gly342Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571593.1",
"strand": true,
"transcript": "ENST00000901534.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 350,
"aa_ref": "G",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1053,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000691576.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Gly337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510066.1",
"strand": true,
"transcript": "ENST00000691576.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 346,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1041,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000901533.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Gly333Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571592.1",
"strand": true,
"transcript": "ENST00000901533.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1038,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001411065.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397994.1",
"strand": true,
"transcript": "NM_001411065.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 345,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1038,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000693150.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510309.1",
"strand": true,
"transcript": "ENST00000693150.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1035,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000685763.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Gly331Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509016.1",
"strand": true,
"transcript": "ENST00000685763.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 957,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000920480.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Gly305Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590539.1",
"strand": true,
"transcript": "ENST00000920480.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 915,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901532.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Gly291Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571591.1",
"strand": true,
"transcript": "ENST00000901532.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 284,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 855,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000686347.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Gly271Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509027.1",
"strand": true,
"transcript": "ENST00000686347.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 258,
"aa_ref": "G",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 777,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920479.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Gly245Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590538.1",
"strand": true,
"transcript": "ENST00000920479.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 217,
"aa_ref": "G",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 661,
"cds_end": null,
"cds_length": 654,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000566326.1",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Gly204Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456438.1",
"strand": true,
"transcript": "ENST00000566326.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 371,
"aa_ref": "G",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011521783.4",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520085.1",
"strand": true,
"transcript": "XM_011521783.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 367,
"aa_ref": "G",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017022411.3",
"gene_hgnc_id": 6840,
"gene_symbol": "MAP2K1",
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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