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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: 7-114654017-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114654017&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 114654017,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000350908.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ala449Val",
"transcript": "ENST00000390668.3",
"protein_id": "ENSP00000375084.3",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 456,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1274C>T",
"hgvs_p": "p.Ala425Val",
"transcript": "ENST00000360232.8",
"protein_id": "ENSP00000353367.4",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 432,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1266+8C>T",
"hgvs_p": null,
"transcript": "NM_014491.4",
"protein_id": "NP_055306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "ENST00000350908.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1266+8C>T",
"hgvs_p": null,
"transcript": "ENST00000350908.9",
"protein_id": "ENSP00000265436.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "NM_014491.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1341+8C>T",
"hgvs_p": null,
"transcript": "ENST00000408937.7",
"protein_id": "ENSP00000386200.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*1060+8C>T",
"hgvs_p": null,
"transcript": "ENST00000393489.8",
"protein_id": "ENSP00000377129.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"transcript": "NM_001172767.2",
"protein_id": "NP_001166238.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 457,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1274C>T",
"hgvs_p": "p.Ala425Val",
"transcript": "NM_148899.3",
"protein_id": "NP_683697.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 432,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1392+8C>T",
"hgvs_p": null,
"transcript": "ENST00000703616.1",
"protein_id": "ENSP00000515400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1341+8C>T",
"hgvs_p": null,
"transcript": "NM_148898.4",
"protein_id": "NP_683696.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1317+8C>T",
"hgvs_p": null,
"transcript": "NM_148900.4",
"protein_id": "NP_683698.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1317+8C>T",
"hgvs_p": null,
"transcript": "ENST00000403559.9",
"protein_id": "ENSP00000385069.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1317+8C>T",
"hgvs_p": null,
"transcript": "ENST00000703613.1",
"protein_id": "ENSP00000515397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1269+8C>T",
"hgvs_p": null,
"transcript": "ENST00000635638.1",
"protein_id": "ENSP00000489073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1266+8C>T",
"hgvs_p": null,
"transcript": "ENST00000393494.6",
"protein_id": "ENSP00000377132.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1266+8C>T",
"hgvs_p": null,
"transcript": "ENST00000703614.1",
"protein_id": "ENSP00000515398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1263+8C>T",
"hgvs_p": null,
"transcript": "NM_001172766.3",
"protein_id": "NP_001166237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1257+8C>T",
"hgvs_p": null,
"transcript": "ENST00000635534.1",
"protein_id": "ENSP00000489229.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1257+8C>T",
"hgvs_p": null,
"transcript": "ENST00000703612.1",
"protein_id": "ENSP00000515396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1215+8C>T",
"hgvs_p": null,
"transcript": "ENST00000634411.1",
"protein_id": "ENSP00000489135.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1203+8C>T",
"hgvs_p": null,
"transcript": "ENST00000393498.6",
"protein_id": "ENSP00000377135.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1206+8C>T",
"hgvs_p": null,
"transcript": "ENST00000634623.1",
"protein_id": "ENSP00000488944.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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],
"gene_symbol": "FOXP2",
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"computational_score_selected": 0.44320279359817505,
"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -16,
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"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000350908.9",
"gene_symbol": "FOXP2",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -8,
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"criteria": [
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"verdict": "Benign",
"transcript": "ENST00000791500.1",
"gene_symbol": "ENSG00000303050",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Childhood apraxia of speech,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|Childhood apraxia of speech",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}