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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: 13-113822060-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113822060&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113822060,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000820.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "NM_000820.4",
"protein_id": "NP_000811.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 678,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": "ENST00000327773.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000820.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "ENST00000327773.7",
"protein_id": "ENSP00000331831.6",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 678,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": "NM_000820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327773.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.2119A>T",
"hgvs_p": "p.Arg707Trp",
"transcript": "ENST00000881729.1",
"protein_id": "ENSP00000551788.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 791,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881729.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1972A>T",
"hgvs_p": "p.Arg658Trp",
"transcript": "ENST00000881736.1",
"protein_id": "ENSP00000551795.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 742,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881736.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1966A>T",
"hgvs_p": "p.Arg656Trp",
"transcript": "ENST00000952114.1",
"protein_id": "ENSP00000622173.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 740,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952114.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1948A>T",
"hgvs_p": "p.Arg650Trp",
"transcript": "ENST00000881740.1",
"protein_id": "ENSP00000551799.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 734,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881740.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1912A>T",
"hgvs_p": "p.Arg638Trp",
"transcript": "ENST00000881726.1",
"protein_id": "ENSP00000551785.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 722,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881726.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1909A>T",
"hgvs_p": "p.Arg637Trp",
"transcript": "ENST00000881723.1",
"protein_id": "ENSP00000551782.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 721,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881723.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1906A>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000881737.1",
"protein_id": "ENSP00000551796.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 720,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881737.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1906A>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000952108.1",
"protein_id": "ENSP00000622167.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 720,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952108.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1903A>T",
"hgvs_p": "p.Arg635Trp",
"transcript": "ENST00000952101.1",
"protein_id": "ENSP00000622160.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 719,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952101.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1888A>T",
"hgvs_p": "p.Arg630Trp",
"transcript": "ENST00000952109.1",
"protein_id": "ENSP00000622168.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 714,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952109.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1834A>T",
"hgvs_p": "p.Arg612Trp",
"transcript": "ENST00000881720.1",
"protein_id": "ENSP00000551779.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 696,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881720.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1828A>T",
"hgvs_p": "p.Arg610Trp",
"transcript": "ENST00000881727.1",
"protein_id": "ENSP00000551786.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 694,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881727.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1810A>T",
"hgvs_p": "p.Arg604Trp",
"transcript": "ENST00000952113.1",
"protein_id": "ENSP00000622172.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 688,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952113.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Arg594Trp",
"transcript": "ENST00000881731.1",
"protein_id": "ENSP00000551790.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 687,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881731.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1798A>T",
"hgvs_p": "p.Arg600Trp",
"transcript": "ENST00000881739.1",
"protein_id": "ENSP00000551798.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 684,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881739.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1774A>T",
"hgvs_p": "p.Arg592Trp",
"transcript": "ENST00000881721.1",
"protein_id": "ENSP00000551780.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 676,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881721.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1726A>T",
"hgvs_p": "p.Arg576Trp",
"transcript": "ENST00000881728.1",
"protein_id": "ENSP00000551787.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 660,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881728.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1711A>T",
"hgvs_p": "p.Arg571Trp",
"transcript": "ENST00000952110.1",
"protein_id": "ENSP00000622169.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 655,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952110.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1690A>T",
"hgvs_p": "p.Arg564Trp",
"transcript": "ENST00000952106.1",
"protein_id": "ENSP00000622165.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 648,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952106.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1657A>T",
"hgvs_p": "p.Arg553Trp",
"transcript": "ENST00000881725.1",
"protein_id": "ENSP00000551784.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 637,
"cds_start": 1657,
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],
"verdict": "Uncertain_significance",
"transcript": "NM_000820.4",
"gene_symbol": "GAS6",
"hgnc_id": 4168,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Arg594Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_044995.2",
"gene_symbol": "GAS6-AS1",
"hgnc_id": 39826,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+6369T>A",
"hgvs_p": null
}
],
"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
}