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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: 3-71047003-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71047003&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FOXP1",
"hgnc_id": 3823,
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001244810.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000647725.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7177,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349338.3",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649528.3",
"protein_coding": true,
"protein_id": "NP_001336267.1",
"strand": false,
"transcript": "NM_001349338.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7177,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649528.3",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349338.3",
"protein_coding": true,
"protein_id": "ENSP00000497369.1",
"strand": false,
"transcript": "ENST00000649528.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7103,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318789.11",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318902.5",
"strand": false,
"transcript": "ENST00000318789.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647725.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285708",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497585.1",
"strand": false,
"transcript": "ENST00000647725.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 232,
"cds_end": null,
"cds_length": 1473,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475937.6",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.41_42delGCinsTT",
"hgvs_p": "p.Arg14Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419393.2",
"strand": false,
"transcript": "ENST00000475937.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1473,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497355.7",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.41_42delGCinsTT",
"hgvs_p": "p.Arg14Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418225.3",
"strand": false,
"transcript": "ENST00000497355.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 718,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 2157,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866065.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536124.1",
"strand": false,
"transcript": "ENST00000866065.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2082,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244810.2",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231739.1",
"strand": false,
"transcript": "NM_001244810.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 614,
"cds_end": null,
"cds_length": 2082,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648426.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498110.1",
"strand": false,
"transcript": "ENST00000648426.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 2079,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923827.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.599_600delGCinsTT",
"hgvs_p": "p.Arg200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593886.1",
"strand": false,
"transcript": "ENST00000923827.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 835,
"cds_end": null,
"cds_length": 2079,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923829.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.599_600delGCinsTT",
"hgvs_p": "p.Arg200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593888.1",
"strand": false,
"transcript": "ENST00000923829.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 838,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244814.3",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231743.1",
"strand": false,
"transcript": "NM_001244814.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7004,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244816.2",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231745.1",
"strand": false,
"transcript": "NM_001244816.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7082,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349340.3",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336269.1",
"strand": false,
"transcript": "NM_001349340.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7088,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032682.6",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116071.2",
"strand": false,
"transcript": "NM_032682.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 942,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498215.7",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418102.1",
"strand": false,
"transcript": "ENST00000498215.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648380.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497344.1",
"strand": false,
"transcript": "ENST00000648380.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649631.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496990.1",
"strand": false,
"transcript": "ENST00000649631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650068.2",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497454.2",
"strand": false,
"transcript": "ENST00000650068.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2034,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866055.1",
"gene_hgnc_id": 3823,
"gene_symbol": "FOXP1",
"hgvs_c": "c.602_603delGCinsTT",
"hgvs_p": "p.Arg201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536114.1",
"strand": false,
"transcript": "ENST00000866055.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 2034,
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}
]
}