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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: 13-113822006-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113822006&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113822006,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000820.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1834G>C",
"hgvs_p": "p.Glu612Gln",
"transcript": "NM_000820.4",
"protein_id": "NP_000811.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 678,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327773.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000820.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1834G>C",
"hgvs_p": "p.Glu612Gln",
"transcript": "ENST00000327773.7",
"protein_id": "ENSP00000331831.6",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 678,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327773.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.2173G>C",
"hgvs_p": "p.Glu725Gln",
"transcript": "ENST00000881729.1",
"protein_id": "ENSP00000551788.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 791,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881729.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.2026G>C",
"hgvs_p": "p.Glu676Gln",
"transcript": "ENST00000881736.1",
"protein_id": "ENSP00000551795.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 742,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881736.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.2020G>C",
"hgvs_p": "p.Glu674Gln",
"transcript": "ENST00000952114.1",
"protein_id": "ENSP00000622173.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 740,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952114.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.2002G>C",
"hgvs_p": "p.Glu668Gln",
"transcript": "ENST00000881740.1",
"protein_id": "ENSP00000551799.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 734,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881740.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1966G>C",
"hgvs_p": "p.Glu656Gln",
"transcript": "ENST00000881726.1",
"protein_id": "ENSP00000551785.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 722,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881726.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1963G>C",
"hgvs_p": "p.Glu655Gln",
"transcript": "ENST00000881723.1",
"protein_id": "ENSP00000551782.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 721,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881723.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1960G>C",
"hgvs_p": "p.Glu654Gln",
"transcript": "ENST00000881737.1",
"protein_id": "ENSP00000551796.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 720,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881737.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1960G>C",
"hgvs_p": "p.Glu654Gln",
"transcript": "ENST00000952108.1",
"protein_id": "ENSP00000622167.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 720,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952108.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1957G>C",
"hgvs_p": "p.Glu653Gln",
"transcript": "ENST00000952101.1",
"protein_id": "ENSP00000622160.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 719,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952101.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1942G>C",
"hgvs_p": "p.Glu648Gln",
"transcript": "ENST00000952109.1",
"protein_id": "ENSP00000622168.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 714,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952109.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1888G>C",
"hgvs_p": "p.Glu630Gln",
"transcript": "ENST00000881720.1",
"protein_id": "ENSP00000551779.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 696,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881720.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1882G>C",
"hgvs_p": "p.Glu628Gln",
"transcript": "ENST00000881727.1",
"protein_id": "ENSP00000551786.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 694,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881727.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1864G>C",
"hgvs_p": "p.Glu622Gln",
"transcript": "ENST00000952113.1",
"protein_id": "ENSP00000622172.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 688,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952113.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1834G>C",
"hgvs_p": "p.Glu612Gln",
"transcript": "ENST00000881731.1",
"protein_id": "ENSP00000551790.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 687,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881731.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1852G>C",
"hgvs_p": "p.Glu618Gln",
"transcript": "ENST00000881739.1",
"protein_id": "ENSP00000551798.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 684,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881739.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1828G>C",
"hgvs_p": "p.Glu610Gln",
"transcript": "ENST00000881721.1",
"protein_id": "ENSP00000551780.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 676,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881721.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1780G>C",
"hgvs_p": "p.Glu594Gln",
"transcript": "ENST00000881728.1",
"protein_id": "ENSP00000551787.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 660,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881728.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1765G>C",
"hgvs_p": "p.Glu589Gln",
"transcript": "ENST00000952110.1",
"protein_id": "ENSP00000622169.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 655,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952110.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1744G>C",
"hgvs_p": "p.Glu582Gln",
"transcript": "ENST00000952106.1",
"protein_id": "ENSP00000622165.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 648,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952106.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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.1711G>C",
"hgvs_p": "p.Glu571Gln",
"transcript": "ENST00000881725.1",
"protein_id": "ENSP00000551784.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 637,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
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"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1834G>C",
"hgvs_p": "p.Glu612Gln"
},
{
"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+6315C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}