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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: 7-114629882-GCAGCAGCAACAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114629882&ref=GCAGCAGCAACAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 114629882,
"ref": "GCAGCAGCAACAA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000350908.9",
"consequences": [
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "NM_014491.4",
"protein_id": "NP_055306.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 715,
"cds_start": 495,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "ENST00000350908.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000350908.9",
"protein_id": "ENSP00000265436.7",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 715,
"cds_start": 495,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "NM_014491.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.570_581delACAACAGCAGCA",
"hgvs_p": "p.Gln191_Gln194del",
"transcript": "ENST00000408937.7",
"protein_id": "ENSP00000386200.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 740,
"cds_start": 570,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.567_578delACAACAGCAGCA",
"hgvs_p": "p.Gln190_Gln193del",
"transcript": "ENST00000390668.3",
"protein_id": "ENSP00000375084.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 456,
"cds_start": 567,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000360232.8",
"protein_id": "ENSP00000353367.4",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 432,
"cds_start": 495,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000378237.7",
"protein_id": "ENSP00000367482.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 365,
"cds_start": 495,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*289_*300delACAACAGCAGCA",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*682_*693delACAACAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000440349.5",
"protein_id": "ENSP00000395552.1",
"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": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*289_*300delACAACAGCAGCA",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*682_*693delACAACAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000440349.5",
"protein_id": "ENSP00000395552.1",
"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": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.621_632delACAACAGCAGCA",
"hgvs_p": "p.Gln208_Gln211del",
"transcript": "ENST00000703616.1",
"protein_id": "ENSP00000515400.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 757,
"cds_start": 621,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.570_581delACAACAGCAGCA",
"hgvs_p": "p.Gln191_Gln194del",
"transcript": "NM_148898.4",
"protein_id": "NP_683696.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 740,
"cds_start": 570,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.546_557delACAACAGCAGCA",
"hgvs_p": "p.Gln183_Gln186del",
"transcript": "NM_148900.4",
"protein_id": "NP_683698.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 732,
"cds_start": 546,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.546_557delACAACAGCAGCA",
"hgvs_p": "p.Gln183_Gln186del",
"transcript": "ENST00000403559.9",
"protein_id": "ENSP00000385069.4",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 732,
"cds_start": 546,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.546_557delACAACAGCAGCA",
"hgvs_p": "p.Gln183_Gln186del",
"transcript": "ENST00000703613.1",
"protein_id": "ENSP00000515397.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 732,
"cds_start": 546,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000635638.1",
"protein_id": "ENSP00000489073.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 716,
"cds_start": 495,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000393494.6",
"protein_id": "ENSP00000377132.2",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 715,
"cds_start": 495,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "ENST00000703614.1",
"protein_id": "ENSP00000515398.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 715,
"cds_start": 495,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.495_506delACAACAGCAGCA",
"hgvs_p": "p.Gln166_Gln169del",
"transcript": "NM_001172766.3",
"protein_id": "NP_001166237.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 714,
"cds_start": 495,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.486_497delACAACAGCAGCA",
"hgvs_p": "p.Gln163_Gln166del",
"transcript": "ENST00000635534.1",
"protein_id": "ENSP00000489229.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 712,
"cds_start": 486,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.486_497delACAACAGCAGCA",
"hgvs_p": "p.Gln163_Gln166del",
"transcript": "ENST00000703612.1",
"protein_id": "ENSP00000515396.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 712,
"cds_start": 486,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.444_455delACAACAGCAGCA",
"hgvs_p": "p.Gln149_Gln152del",
"transcript": "ENST00000634411.1",
"protein_id": "ENSP00000489135.1",
"transcript_support_level": 5,
"aa_start": 148,
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}