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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: 3-50559661-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50559661&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50559661,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357203.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "NM_016210.5",
"protein_id": "NP_057294.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": "ENST00000357203.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "ENST00000357203.8",
"protein_id": "ENSP00000349732.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": "NM_016210.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "ENST00000426034.5",
"protein_id": "ENSP00000387606.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "ENST00000449241.5",
"protein_id": "ENSP00000404913.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "ENST00000441239.5",
"protein_id": "ENSP00000414124.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 142,
"cds_start": 425,
"cds_end": null,
"cds_length": 429,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "n.257C>T",
"hgvs_p": null,
"transcript": "ENST00000485902.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "n.410C>T",
"hgvs_p": null,
"transcript": "ENST00000486175.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "NM_001171740.3",
"protein_id": "NP_001165211.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "NM_001171741.3",
"protein_id": "NP_001165212.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "NM_001171743.3",
"protein_id": "NP_001165214.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 142,
"cds_start": 425,
"cds_end": null,
"cds_length": 429,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Ala110Val",
"transcript": "ENST00000422619.1",
"protein_id": "ENSP00000399129.1",
"transcript_support_level": 4,
"aa_start": 110,
"aa_end": null,
"aa_length": 110,
"cds_start": 329,
"cds_end": null,
"cds_length": 333,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Ala236Val",
"transcript": "XM_011533781.3",
"protein_id": "XP_011532083.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 236,
"cds_start": 707,
"cds_end": null,
"cds_length": 711,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_011533782.3",
"protein_id": "XP_011532084.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 166,
"cds_start": 497,
"cds_end": null,
"cds_length": 501,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_011533783.3",
"protein_id": "XP_011532085.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 166,
"cds_start": 497,
"cds_end": null,
"cds_length": 501,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_011533784.3",
"protein_id": "XP_011532086.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 166,
"cds_start": 497,
"cds_end": null,
"cds_length": 501,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_011533785.3",
"protein_id": "XP_011532087.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 166,
"cds_start": 497,
"cds_end": null,
"cds_length": 501,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_047448248.1",
"protein_id": "XP_047304204.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 166,
"cds_start": 497,
"cds_end": null,
"cds_length": 501,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"transcript": "XM_047448249.1",
"protein_id": "XP_047304205.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 162,
"cds_start": 485,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "XM_011533790.2",
"protein_id": "XP_011532092.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 142,
"cds_start": 425,
"cds_end": null,
"cds_length": 429,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "XM_017006547.2",
"protein_id": "XP_016862036.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 142,
"cds_start": 425,
"cds_end": null,
"cds_length": 429,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "XM_047448252.1",
"protein_id": "XP_047304208.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 142,
"cds_start": 425,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000430746.5",
"protein_id": "ENSP00000400599.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf18",
"gene_hgnc_id": 24837,
"hgvs_c": "n.376C>T",
"hgvs_p": null,
"transcript": "ENST00000464080.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
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"effects": [
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"clinvar_disease": "",
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}
],
"message": null
}