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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: 3-183071002-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183071002&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183071002,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265594.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "NM_020166.5",
"protein_id": "NP_064551.3",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 725,
"cds_start": 758,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "ENST00000265594.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "ENST00000265594.9",
"protein_id": "ENSP00000265594.4",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 725,
"cds_start": 758,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "NM_020166.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Pro144Gln",
"transcript": "ENST00000492597.5",
"protein_id": "ENSP00000419898.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 616,
"cds_start": 431,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2774,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*355C>A",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*355C>A",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Pro144Gln",
"transcript": "NM_001363880.1",
"protein_id": "NP_001350809.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 616,
"cds_start": 431,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Pro136Gln",
"transcript": "NM_001293273.2",
"protein_id": "NP_001280202.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 608,
"cds_start": 407,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.617C>A",
"hgvs_p": "p.Pro206Gln",
"transcript": "ENST00000476176.5",
"protein_id": "ENSP00000420433.1",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 597,
"cds_start": 617,
"cds_end": null,
"cds_length": 1796,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Pro215Gln",
"transcript": "ENST00000629669.2",
"protein_id": "ENSP00000486824.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 434,
"cds_start": 644,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Pro236Gln",
"transcript": "XM_047448586.1",
"protein_id": "XP_047304542.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 708,
"cds_start": 707,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Pro215Gln",
"transcript": "XM_011512992.3",
"protein_id": "XP_011511294.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 687,
"cds_start": 644,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Pro144Gln",
"transcript": "XM_047448588.1",
"protein_id": "XP_047304544.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 616,
"cds_start": 431,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Pro144Gln",
"transcript": "XM_047448589.1",
"protein_id": "XP_047304545.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 616,
"cds_start": 431,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "XM_047448587.1",
"protein_id": "XP_047304543.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 561,
"cds_start": 758,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln",
"transcript": "XM_047448590.1",
"protein_id": "XP_047304546.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 472,
"cds_start": 758,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Pro236Gln",
"transcript": "XM_047448591.1",
"protein_id": "XP_047304547.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 455,
"cds_start": 707,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2096,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*339C>A",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"transcript_support_level": 2,
"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": 1860,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.644C>A",
"hgvs_p": null,
"transcript": "ENST00000497959.5",
"protein_id": "ENSP00000420648.1",
"transcript_support_level": 2,
"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": 2874,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.581C>A",
"hgvs_p": null,
"transcript": "NR_120639.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2171,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.1425C>A",
"hgvs_p": null,
"transcript": "NR_120640.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2945,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.905C>A",
"hgvs_p": null,
"transcript": "XR_007095707.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*339C>A",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"transcript_support_level": 2,
"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": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*379C>A",
"hgvs_p": null,
"transcript": "ENST00000466650.5",
"protein_id": "ENSP00000418979.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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{
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}
],
"gene_symbol": "MCCC1",
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"dbsnp": "rs202083272",
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"gnomad_exomes_af": null,
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"computational_score_selected": 0.9299337267875671,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.84,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.474,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000265594.9",
"gene_symbol": "MCCC1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Pro253Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}