← Back to variant description
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: 3-183092443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183092443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183092443,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265594.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Ser80Asn",
"transcript": "NM_020166.5",
"protein_id": "NP_064551.3",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 725,
"cds_start": 239,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "ENST00000265594.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Ser80Asn",
"transcript": "ENST00000265594.9",
"protein_id": "ENSP00000265594.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 725,
"cds_start": 239,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "NM_020166.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-55+2116G>A",
"hgvs_p": null,
"transcript": "ENST00000492597.5",
"protein_id": "ENSP00000419898.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.136+2116G>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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000629669.2",
"protein_id": "ENSP00000486824.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 434,
"cds_start": 125,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Ser63Asn",
"transcript": "XM_047448586.1",
"protein_id": "XP_047304542.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 708,
"cds_start": 188,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "XM_011512992.3",
"protein_id": "XP_011511294.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 687,
"cds_start": 125,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Ser80Asn",
"transcript": "XM_047448587.1",
"protein_id": "XP_047304543.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Ser80Asn",
"transcript": "XM_047448590.1",
"protein_id": "XP_047304546.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 472,
"cds_start": 239,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Ser63Asn",
"transcript": "XM_047448591.1",
"protein_id": "XP_047304547.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 455,
"cds_start": 188,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 873,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.152G>A",
"hgvs_p": null,
"transcript": "ENST00000473955.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 222,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.239G>A",
"hgvs_p": null,
"transcript": "ENST00000486226.1",
"protein_id": "ENSP00000420223.1",
"transcript_support_level": 3,
"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": 581,
"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": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.125G>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": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.906G>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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.386G>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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-55+2116G>A",
"hgvs_p": null,
"transcript": "NM_001363880.1",
"protein_id": "NP_001350809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.44+2116G>A",
"hgvs_p": null,
"transcript": "NM_001293273.2",
"protein_id": "NP_001280202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.136+2116G>A",
"hgvs_p": null,
"transcript": "ENST00000476176.5",
"protein_id": "ENSP00000420433.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.136+2116G>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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.136+2116G>A",
"hgvs_p": null,
"transcript": "ENST00000487634.5",
"protein_id": "ENSP00000420591.1",
"transcript_support_level": 4,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.89+6909G>A",
"hgvs_p": null,
"transcript": "ENST00000490284.5",
"protein_id": "ENSP00000419328.1",
"transcript_support_level": 4,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.136+2116G>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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.192+2116G>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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-55+2116G>A",
"hgvs_p": null,
"transcript": "XM_047448588.1",
"protein_id": "XP_047304544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"dbsnp": "rs774565207",
"frequency_reference_population": 0.000009911883,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889263,
"gnomad_genomes_af": 0.0000196928,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9581799507141113,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.848,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.468,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000265594.9",
"gene_symbol": "MCCC1",
"hgnc_id": 6936,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Ser80Asn"
}
],
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 1 deficiency,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "3-methylcrotonyl-CoA carboxylase 1 deficiency|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}