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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: 18-12325203-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12325203&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12325203,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_032525.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser",
"transcript": "NM_032525.3",
"protein_id": "NP_115914.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 446,
"cds_start": 414,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317702.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032525.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser",
"transcript": "ENST00000317702.10",
"protein_id": "ENSP00000318697.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 446,
"cds_start": 414,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032525.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317702.10"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.278-3943G>T",
"hgvs_p": null,
"transcript": "ENST00000591909.5",
"protein_id": "ENSP00000465040.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "n.*455G>T",
"hgvs_p": null,
"transcript": "ENST00000586810.5",
"protein_id": "ENSP00000467348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "n.*455G>T",
"hgvs_p": null,
"transcript": "ENST00000586810.5",
"protein_id": "ENSP00000467348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586810.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.332G>T",
"hgvs_p": "p.Arg111Leu",
"transcript": "ENST00000591208.1",
"protein_id": "ENSP00000466849.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 136,
"cds_start": 332,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591208.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser",
"transcript": "NM_001303524.1",
"protein_id": "NP_001290453.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 446,
"cds_start": 414,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303524.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser",
"transcript": "ENST00000933565.1",
"protein_id": "ENSP00000603624.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 446,
"cds_start": 414,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933565.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser",
"transcript": "ENST00000933566.1",
"protein_id": "ENSP00000603625.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 446,
"cds_start": 414,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933566.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Ser101Ser",
"transcript": "NM_001303526.2",
"protein_id": "NP_001290455.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 409,
"cds_start": 303,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303526.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Ser73Ser",
"transcript": "NM_001303528.2",
"protein_id": "NP_001290457.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 381,
"cds_start": 219,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303528.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.198G>T",
"hgvs_p": "p.Ser66Ser",
"transcript": "NM_001303527.2",
"protein_id": "NP_001290456.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 374,
"cds_start": 198,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303527.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Ser101Ser",
"transcript": "ENST00000590103.5",
"protein_id": "ENSP00000468777.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 337,
"cds_start": 303,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590103.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.198G>T",
"hgvs_p": "p.Ser66Ser",
"transcript": "ENST00000591463.1",
"protein_id": "ENSP00000468571.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 115,
"cds_start": 198,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591463.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.-25G>T",
"hgvs_p": null,
"transcript": "NM_001303529.3",
"protein_id": "NP_001290458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303529.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.-25G>T",
"hgvs_p": null,
"transcript": "NM_001303530.3",
"protein_id": "NP_001290459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303530.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.*381G>T",
"hgvs_p": null,
"transcript": "ENST00000586653.5",
"protein_id": "ENSP00000468820.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": null,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586653.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.278-11910G>T",
"hgvs_p": null,
"transcript": "ENST00000590967.5",
"protein_id": "ENSP00000465386.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590967.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.278-3943G>T",
"hgvs_p": null,
"transcript": "NM_001303525.2",
"protein_id": "NP_001290454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303525.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.85+14150G>T",
"hgvs_p": null,
"transcript": "ENST00000586691.1",
"protein_id": "ENSP00000465448.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "n.803G>T",
"hgvs_p": null,
"transcript": "ENST00000417736.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000417736.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TUBB6",
"gene_hgnc_id": 20776,
"hgvs_c": "c.*22G>T",
"hgvs_p": null,
"transcript": "ENST00000590693.5",
"protein_id": "ENSP00000465891.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590693.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"gene_symbol": "TUBB6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590388.5"
}
],
"gene_symbol": "TUBB6",
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"dbsnp": "rs148645230",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013682,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07921963930130005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1244,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.748,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_032525.3",
"gene_symbol": "TUBB6",
"hgnc_id": 20776,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.414G>T",
"hgvs_p": "p.Ser138Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}