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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: 13-113822101-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113822101&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113822101,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000820.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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.1739C>T",
"hgvs_p": "p.Ser580Leu",
"transcript": "NM_000820.4",
"protein_id": "NP_000811.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 678,
"cds_start": 1739,
"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": "S",
"aa_alt": "L",
"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.1739C>T",
"hgvs_p": "p.Ser580Leu",
"transcript": "ENST00000327773.7",
"protein_id": "ENSP00000331831.6",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 678,
"cds_start": 1739,
"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": "S",
"aa_alt": "L",
"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.2078C>T",
"hgvs_p": "p.Ser693Leu",
"transcript": "ENST00000881729.1",
"protein_id": "ENSP00000551788.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 791,
"cds_start": 2078,
"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": "S",
"aa_alt": "L",
"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.1931C>T",
"hgvs_p": "p.Ser644Leu",
"transcript": "ENST00000881736.1",
"protein_id": "ENSP00000551795.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 742,
"cds_start": 1931,
"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": "S",
"aa_alt": "L",
"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.1925C>T",
"hgvs_p": "p.Ser642Leu",
"transcript": "ENST00000952114.1",
"protein_id": "ENSP00000622173.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 740,
"cds_start": 1925,
"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": "S",
"aa_alt": "L",
"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.1907C>T",
"hgvs_p": "p.Ser636Leu",
"transcript": "ENST00000881740.1",
"protein_id": "ENSP00000551799.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 734,
"cds_start": 1907,
"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": "S",
"aa_alt": "L",
"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.1871C>T",
"hgvs_p": "p.Ser624Leu",
"transcript": "ENST00000881726.1",
"protein_id": "ENSP00000551785.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 722,
"cds_start": 1871,
"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": "S",
"aa_alt": "L",
"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.1868C>T",
"hgvs_p": "p.Ser623Leu",
"transcript": "ENST00000881723.1",
"protein_id": "ENSP00000551782.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 721,
"cds_start": 1868,
"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": "S",
"aa_alt": "L",
"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.1865C>T",
"hgvs_p": "p.Ser622Leu",
"transcript": "ENST00000881737.1",
"protein_id": "ENSP00000551796.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 720,
"cds_start": 1865,
"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": "S",
"aa_alt": "L",
"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.1865C>T",
"hgvs_p": "p.Ser622Leu",
"transcript": "ENST00000952108.1",
"protein_id": "ENSP00000622167.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 720,
"cds_start": 1865,
"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": "S",
"aa_alt": "L",
"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.1862C>T",
"hgvs_p": "p.Ser621Leu",
"transcript": "ENST00000952101.1",
"protein_id": "ENSP00000622160.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 719,
"cds_start": 1862,
"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": "S",
"aa_alt": "L",
"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.1847C>T",
"hgvs_p": "p.Ser616Leu",
"transcript": "ENST00000952109.1",
"protein_id": "ENSP00000622168.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 714,
"cds_start": 1847,
"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": "S",
"aa_alt": "L",
"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.1793C>T",
"hgvs_p": "p.Ser598Leu",
"transcript": "ENST00000881720.1",
"protein_id": "ENSP00000551779.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 696,
"cds_start": 1793,
"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": "S",
"aa_alt": "L",
"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.1787C>T",
"hgvs_p": "p.Ser596Leu",
"transcript": "ENST00000881727.1",
"protein_id": "ENSP00000551786.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 694,
"cds_start": 1787,
"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": "S",
"aa_alt": "L",
"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.1769C>T",
"hgvs_p": "p.Ser590Leu",
"transcript": "ENST00000952113.1",
"protein_id": "ENSP00000622172.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 688,
"cds_start": 1769,
"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": "S",
"aa_alt": "L",
"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.1739C>T",
"hgvs_p": "p.Ser580Leu",
"transcript": "ENST00000881731.1",
"protein_id": "ENSP00000551790.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 687,
"cds_start": 1739,
"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": "S",
"aa_alt": "L",
"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.1757C>T",
"hgvs_p": "p.Ser586Leu",
"transcript": "ENST00000881739.1",
"protein_id": "ENSP00000551798.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 684,
"cds_start": 1757,
"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": "S",
"aa_alt": "L",
"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.1733C>T",
"hgvs_p": "p.Ser578Leu",
"transcript": "ENST00000881721.1",
"protein_id": "ENSP00000551780.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 676,
"cds_start": 1733,
"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": "S",
"aa_alt": "L",
"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.1685C>T",
"hgvs_p": "p.Ser562Leu",
"transcript": "ENST00000881728.1",
"protein_id": "ENSP00000551787.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 660,
"cds_start": 1685,
"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": "S",
"aa_alt": "L",
"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.1670C>T",
"hgvs_p": "p.Ser557Leu",
"transcript": "ENST00000952110.1",
"protein_id": "ENSP00000622169.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 655,
"cds_start": 1670,
"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": "S",
"aa_alt": "L",
"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.1649C>T",
"hgvs_p": "p.Ser550Leu",
"transcript": "ENST00000952106.1",
"protein_id": "ENSP00000622165.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 648,
"cds_start": 1649,
"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": "S",
"aa_alt": "L",
"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.1616C>T",
"hgvs_p": "p.Ser539Leu",
"transcript": "ENST00000881725.1",
"protein_id": "ENSP00000551784.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 637,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1914,
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"verdict": "Benign",
"transcript": "NM_000820.4",
"gene_symbol": "GAS6",
"hgnc_id": 4168,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Ser580Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_044995.2",
"gene_symbol": "GAS6-AS1",
"hgnc_id": 39826,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+6410G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}