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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: 3-70977907-GAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=70977907&ref=GAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 70977907,
"ref": "GAC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001244810.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349338.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649528.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318789.11"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647725.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.706_707delGT",
"hgvs_p": "p.Val236fs",
"transcript": "ENST00000475937.6",
"protein_id": "ENSP00000419393.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 490,
"cds_start": 706,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475937.6"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.706_707delGT",
"hgvs_p": "p.Val236fs",
"transcript": "ENST00000497355.7",
"protein_id": "ENSP00000418225.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 490,
"cds_start": 706,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497355.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000866065.1",
"protein_id": "ENSP00000536124.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 718,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866065.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 693,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244810.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 693,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648426.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1264_1265delGT",
"hgvs_p": "p.Val422fs",
"transcript": "ENST00000923827.1",
"protein_id": "ENSP00000593886.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 692,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923827.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1264_1265delGT",
"hgvs_p": "p.Val422fs",
"transcript": "ENST00000923829.1",
"protein_id": "ENSP00000593888.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 692,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923829.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244814.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244816.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349340.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "NM_032682.6",
"protein_id": "NP_116071.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032682.6"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000498215.7",
"protein_id": "ENSP00000418102.1",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498215.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000648380.1",
"protein_id": "ENSP00000497344.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648380.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000649631.1",
"protein_id": "ENSP00000496990.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649631.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000650068.2",
"protein_id": "ENSP00000497454.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650068.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000866055.1",
"protein_id": "ENSP00000536114.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866055.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000866061.1",
"protein_id": "ENSP00000536120.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866061.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs",
"transcript": "ENST00000866062.1",
"protein_id": "ENSP00000536121.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 677,
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001244810.2",
"gene_symbol": "FOXP1",
"hgnc_id": 3823,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1267_1268delGT",
"hgvs_p": "p.Val423fs"
}
],
"clinvar_disease": "Intellectual disability-severe speech delay-mild dysmorphism syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability-severe speech delay-mild dysmorphism syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}