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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: 13-113827141-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113827141&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GAS6",
"hgnc_id": 4168,
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Cys444Trp",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000820.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GAS6-AS1",
"hgnc_id": 39826,
"hgvs_c": "n.83-6351G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NR_044995.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9863,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9740829467773438,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "C",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_000820.4",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Cys444Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327773.7",
"protein_coding": true,
"protein_id": "NP_000811.1",
"strand": false,
"transcript": "NM_000820.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "C",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000327773.7",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Cys444Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000820.4",
"protein_coding": true,
"protein_id": "ENSP00000331831.6",
"strand": false,
"transcript": "ENST00000327773.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 791,
"aa_ref": "C",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881729.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Cys557Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551788.1",
"strand": false,
"transcript": "ENST00000881729.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 742,
"aa_ref": "C",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1524,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881736.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Cys508Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551795.1",
"strand": false,
"transcript": "ENST00000881736.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 740,
"aa_ref": "C",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1518,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952114.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Cys506Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622173.1",
"strand": false,
"transcript": "ENST00000952114.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 734,
"aa_ref": "C",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1500,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881740.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1500C>G",
"hgvs_p": "p.Cys500Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551799.1",
"strand": false,
"transcript": "ENST00000881740.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 722,
"aa_ref": "C",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1464,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881726.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1464C>G",
"hgvs_p": "p.Cys488Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551785.1",
"strand": false,
"transcript": "ENST00000881726.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 721,
"aa_ref": "C",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1461,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881723.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1461C>G",
"hgvs_p": "p.Cys487Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551782.1",
"strand": false,
"transcript": "ENST00000881723.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 720,
"aa_ref": "C",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1458,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881737.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1458C>G",
"hgvs_p": "p.Cys486Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551796.1",
"strand": false,
"transcript": "ENST00000881737.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 720,
"aa_ref": "C",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1458,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952108.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1458C>G",
"hgvs_p": "p.Cys486Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622167.1",
"strand": false,
"transcript": "ENST00000952108.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 719,
"aa_ref": "C",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1455,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952101.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1455C>G",
"hgvs_p": "p.Cys485Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622160.1",
"strand": false,
"transcript": "ENST00000952101.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 714,
"aa_ref": "C",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1440,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952109.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1440C>G",
"hgvs_p": "p.Cys480Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622168.1",
"strand": false,
"transcript": "ENST00000952109.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 696,
"aa_ref": "C",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1386,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881720.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Cys462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551779.1",
"strand": false,
"transcript": "ENST00000881720.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 694,
"aa_ref": "C",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881727.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Cys460Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551786.1",
"strand": false,
"transcript": "ENST00000881727.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "C",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1362,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952113.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1362C>G",
"hgvs_p": "p.Cys454Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622172.1",
"strand": false,
"transcript": "ENST00000952113.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 687,
"aa_ref": "C",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881731.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Cys444Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551790.1",
"strand": false,
"transcript": "ENST00000881731.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 684,
"aa_ref": "C",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1350,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881739.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1350C>G",
"hgvs_p": "p.Cys450Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551798.1",
"strand": false,
"transcript": "ENST00000881739.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 676,
"aa_ref": "C",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881721.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Cys442Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551780.1",
"strand": false,
"transcript": "ENST00000881721.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 660,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1278,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881728.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Cys426Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551787.1",
"strand": false,
"transcript": "ENST00000881728.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 655,
"aa_ref": "C",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1263,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952110.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1263C>G",
"hgvs_p": "p.Cys421Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622169.1",
"strand": false,
"transcript": "ENST00000952110.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 648,
"aa_ref": "C",
"aa_start": 414,
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"spliceai_max_score": 0,
"transcript": "NM_000820.4"
}
]
}