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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: 3-70977658-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=70977658&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 70977658,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000647725.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.852A>G",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000475937.6",
"protein_id": "ENSP00000419393.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 490,
"cds_start": 852,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.852A>G",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000497355.7",
"protein_id": "ENSP00000418225.3",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 490,
"cds_start": 852,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 693,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 693,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "NM_032682.6",
"protein_id": "NP_116071.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000498215.7",
"protein_id": "ENSP00000418102.1",
"transcript_support_level": 2,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000648380.1",
"protein_id": "ENSP00000497344.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000649631.1",
"protein_id": "ENSP00000496990.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala",
"transcript": "ENST00000650068.2",
"protein_id": "ENSP00000497454.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 677,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "NM_001244808.3",
"protein_id": "NP_001231737.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "NM_001349341.3",
"protein_id": "NP_001336270.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "ENST00000493089.7",
"protein_id": "ENSP00000418524.1",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "ENST00000648710.2",
"protein_id": "ENSP00000497430.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "ENST00000648718.1",
"protein_id": "ENSP00000496810.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1410A>G",
"hgvs_p": "p.Ala470Ala",
"transcript": "ENST00000649610.2",
"protein_id": "ENSP00000497693.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 676,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1407A>G",
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},
{
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],
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}
],
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"dbsnp": "rs144080925",
"frequency_reference_population": 0.0018005454,
"hom_count_reference_population": 20,
"allele_count_reference_population": 2905,
"gnomad_exomes_af": 0.00186651,
"gnomad_genomes_af": 0.00116809,
"gnomad_exomes_ac": 2727,
"gnomad_genomes_ac": 178,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 1,
"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": 2.202,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala"
},
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000649528.3",
"gene_symbol": "FOXP1",
"hgnc_id": 3823,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1413A>G",
"hgvs_p": "p.Ala471Ala"
}
],
"clinvar_disease": "FOXP1-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|not provided|FOXP1-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}