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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: 6-157084773-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157084773&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157084773,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 2372,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 787,
"aa_end": null,
"aa_length": 2372,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Gln800Glu",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 800,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2398,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 787,
"aa_end": null,
"aa_length": 2319,
"cds_start": 2359,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.-141C>G",
"hgvs_p": null,
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": -4,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 2415,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 787,
"aa_end": null,
"aa_length": 2415,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2401C>G",
"hgvs_p": "p.Gln801Glu",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 2386,
"cds_start": 2401,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 787,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2359,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2401C>G",
"hgvs_p": "p.Gln801Glu",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 2333,
"cds_start": 2401,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 10193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Gln800Glu",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2398,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 10807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Gln800Glu",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 2332,
"cds_start": 2398,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 2319,
"cds_start": 2359,
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"cdna_start": 2662,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2359C>G",
"hgvs_p": "p.Gln787Glu",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 2312,
"cds_start": 2359,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Gln125Glu",
"transcript": "ENST00000319584.11",
"protein_id": "ENSP00000313006.7",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 727,
"cds_start": 373,
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"cdna_start": 373,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Gln814Glu",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 2442,
"cds_start": 2440,
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"cds_length": 7329,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2401C>G",
"hgvs_p": "p.Gln801Glu",
"transcript": "XM_047419130.1",
"protein_id": "XP_047275086.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 2429,
"cds_start": 2401,
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"cdna_start": 2704,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Gln800Glu",
"transcript": "XM_047419131.1",
"protein_id": "XP_047275087.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Gln814Glu",
"transcript": "XM_017011104.2",
"protein_id": "XP_016866593.2",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
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"cds_start": 2440,
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"cdna_start": 2743,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Gln814Glu",
"transcript": "XM_017011105.3",
"protein_id": "XP_016866594.2",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 2389,
"cds_start": 2440,
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"cds_length": 7170,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 10361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.2398C>G",
"hgvs_p": "p.Gln800Glu",
"transcript": "XM_047419134.1",
"protein_id": "XP_047275090.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 2385,
"cds_start": 2398,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 10349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
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{
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"verdict": "Uncertain_significance",
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}
],
"message": null
}