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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: 12-8917770-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8917770&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8917770,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004426.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_004426.3",
"protein_id": "NP_004417.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544916.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004426.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000544916.6",
"protein_id": "ENSP00000437659.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004426.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544916.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000543824.5",
"protein_id": "ENSP00000440674.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543824.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000433083.6",
"protein_id": "ENSP00000399194.2",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 959,
"cds_start": 93,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433083.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "n.93T>A",
"hgvs_p": null,
"transcript": "ENST00000540574.5",
"protein_id": "ENSP00000444308.1",
"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": "ENST00000540574.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936637.1",
"protein_id": "ENSP00000606696.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1010,
"cds_start": 93,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936637.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001413738.1",
"protein_id": "NP_001400667.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413738.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000891310.1",
"protein_id": "ENSP00000561369.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891310.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936667.1",
"protein_id": "ENSP00000606726.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936667.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936668.1",
"protein_id": "ENSP00000606727.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936668.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936669.1",
"protein_id": "ENSP00000606728.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936669.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936671.1",
"protein_id": "ENSP00000606730.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936671.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936673.1",
"protein_id": "ENSP00000606732.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936673.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936675.1",
"protein_id": "ENSP00000606734.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936675.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936676.1",
"protein_id": "ENSP00000606735.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1004,
"cds_start": 93,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936676.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001413739.1",
"protein_id": "NP_001400668.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1002,
"cds_start": 93,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413739.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936645.1",
"protein_id": "ENSP00000606704.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1002,
"cds_start": 93,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936645.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936646.1",
"protein_id": "ENSP00000606705.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1002,
"cds_start": 93,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936646.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936649.1",
"protein_id": "ENSP00000606708.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1002,
"cds_start": 93,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936649.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000936663.1",
"protein_id": "ENSP00000606722.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1000,
"cds_start": 93,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936663.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001413740.1",
"protein_id": "NP_001400669.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 996,
"cds_start": 93,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413740.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000891307.1",
"protein_id": "ENSP00000561366.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 996,
"cds_start": 93,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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{
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{
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"transcript": "NR_182209.1",
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"biotype": "pseudogene",
"feature": "NR_182209.1"
}
],
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"dbsnp": "rs4883198",
"frequency_reference_population": 0.71453977,
"hom_count_reference_population": 401041,
"allele_count_reference_population": 1115468,
"gnomad_exomes_af": 0.718781,
"gnomad_genomes_af": 0.675189,
"gnomad_exomes_ac": 1012923,
"gnomad_genomes_ac": 102545,
"gnomad_exomes_homalt": 366046,
"gnomad_genomes_homalt": 34995,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.038,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004426.3",
"gene_symbol": "PHC1",
"hgnc_id": 3182,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.93T>A",
"hgvs_p": "p.Leu31Leu"
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 11,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Microcephaly 11, primary, autosomal recessive",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}