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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: 1-215579080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=215579080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 215579080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016121.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_016121.5",
"protein_id": "NP_057205.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 815,
"cds_start": 478,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259154.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016121.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000259154.9",
"protein_id": "ENSP00000259154.2",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 815,
"cds_start": 478,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016121.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259154.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.-267C>T",
"hgvs_p": null,
"transcript": "XM_047422104.1",
"protein_id": "XP_047278060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422104.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000964520.1",
"protein_id": "ENSP00000634579.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 822,
"cds_start": 499,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964520.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000964519.1",
"protein_id": "ENSP00000634578.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 815,
"cds_start": 478,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964519.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000964521.1",
"protein_id": "ENSP00000634580.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 814,
"cds_start": 478,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964521.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001319294.2",
"protein_id": "NP_001306223.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 813,
"cds_start": 478,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319294.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000905624.1",
"protein_id": "ENSP00000575683.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 813,
"cds_start": 478,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905624.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000905627.1",
"protein_id": "ENSP00000575686.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 812,
"cds_start": 478,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905627.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000919549.1",
"protein_id": "ENSP00000589608.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 810,
"cds_start": 478,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919549.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000964523.1",
"protein_id": "ENSP00000634582.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 807,
"cds_start": 454,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964523.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000905626.1",
"protein_id": "ENSP00000575685.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 806,
"cds_start": 478,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905626.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000905630.1",
"protein_id": "ENSP00000575689.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 804,
"cds_start": 478,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905630.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Trp",
"transcript": "ENST00000905625.1",
"protein_id": "ENSP00000575684.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 788,
"cds_start": 397,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905625.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000905631.1",
"protein_id": "ENSP00000575690.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 787,
"cds_start": 478,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905631.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Trp",
"transcript": "ENST00000905628.1",
"protein_id": "ENSP00000575687.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 786,
"cds_start": 397,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905628.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133Trp",
"transcript": "ENST00000905629.1",
"protein_id": "ENSP00000575688.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 779,
"cds_start": 397,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905629.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000964522.1",
"protein_id": "ENSP00000634581.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 776,
"cds_start": 478,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964522.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Trp",
"transcript": "NM_001319295.2",
"protein_id": "NP_001306224.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 711,
"cds_start": 172,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319295.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Trp",
"transcript": "ENST00000448333.1",
"protein_id": "ENSP00000396726.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 212,
"cds_start": 394,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448333.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Trp",
"transcript": "XM_005273158.3",
"protein_id": "XP_005273215.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 713,
"cds_start": 172,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273158.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.-267C>T",
"hgvs_p": null,
"transcript": "XM_047422104.1",
"protein_id": "XP_047278060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"hgvs_c": "c.316+1352C>T",
"hgvs_p": null,
"transcript": "ENST00000919550.1",
"protein_id": "ENSP00000589609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919550.1"
}
],
"gene_symbol": "KCTD3",
"gene_hgnc_id": 21305,
"dbsnp": "rs752225604",
"frequency_reference_population": 0.000011754018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.000011754,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43376412987709045,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.077,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.322,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016121.5",
"gene_symbol": "KCTD3",
"hgnc_id": 21305,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}