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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: 11-694780-C-CGGCCTCGTCGGGGCCGGGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=694780&ref=C&alt=CGGCCTCGTCGGGGCCGGGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 694780,
"ref": "C",
"alt": "CGGCCTCGTCGGGGCCGGGCAG",
"effect": "conservative_inframe_insertion",
"transcript": "NM_021008.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "NM_021008.4",
"protein_id": "NP_066288.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 565,
"cds_start": 267,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382409.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021008.4"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000382409.4",
"protein_id": "ENSP00000371846.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 565,
"cds_start": 267,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021008.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382409.4"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000882097.1",
"protein_id": "ENSP00000552156.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 607,
"cds_start": 267,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882097.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.43_63dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala21_Ala22insLeuProGlyProAspGluAla",
"transcript": "ENST00000685854.1",
"protein_id": "ENSP00000508801.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 599,
"cds_start": 63,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685854.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000917805.1",
"protein_id": "ENSP00000587864.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 564,
"cds_start": 267,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917805.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000942422.1",
"protein_id": "ENSP00000612481.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 543,
"cds_start": 267,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942422.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "NM_001440883.1",
"protein_id": "NP_001427812.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 535,
"cds_start": 267,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440883.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000917806.1",
"protein_id": "ENSP00000587865.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 535,
"cds_start": 267,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917806.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "NM_001440884.1",
"protein_id": "NP_001427813.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 522,
"cds_start": 267,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440884.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "ENST00000942421.1",
"protein_id": "ENSP00000612480.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 515,
"cds_start": 267,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942421.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "NM_001293634.2",
"protein_id": "NP_001280563.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 490,
"cds_start": 267,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293634.2"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.43_63dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala21_Ala22insLeuProGlyProAspGluAla",
"transcript": "ENST00000686001.1",
"protein_id": "ENSP00000508459.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 489,
"cds_start": 63,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686001.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.43_63dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala21_Ala22insLeuProGlyProAspGluAla",
"transcript": "ENST00000689835.1",
"protein_id": "ENSP00000510621.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 470,
"cds_start": 63,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689835.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.43_63dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala21_Ala22insLeuProGlyProAspGluAla",
"transcript": "ENST00000690068.1",
"protein_id": "ENSP00000509089.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 454,
"cds_start": 63,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690068.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "XM_047426248.1",
"protein_id": "XP_047282204.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 561,
"cds_start": 267,
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"cds_length": 1686,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426248.1"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "XM_011519842.4",
"protein_id": "XP_011518144.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 551,
"cds_start": 267,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519842.4"
},
{
"aa_ref": "A",
"aa_alt": "ALPGPDEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla",
"transcript": "XM_047426249.1",
"protein_id": "XP_047282205.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 539,
"cds_start": 267,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047426249.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.-350_-330dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": null,
"transcript": "NM_001440885.1",
"protein_id": "NP_001427814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440885.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.-1750_-1730dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": null,
"transcript": "NM_001440886.1",
"protein_id": "NP_001427815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.-560_-540dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": null,
"transcript": "NM_001440887.1",
"protein_id": "NP_001427816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
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"cds_length": 972,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.-560_-540dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": null,
"transcript": "XM_047426250.1",
"protein_id": "XP_047282206.1",
"transcript_support_level": null,
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{
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{
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{
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"feature": "ENST00000524763.5"
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{
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],
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{
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},
{
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{
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],
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{
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],
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{
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},
{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"dbsnp": "rs1861033651",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.193,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021008.4",
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.247_267dupCTGCCCGGCCCCGACGAGGCC",
"hgvs_p": "p.Ala89_Ala90insLeuProGlyProAspGluAla"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000524763.5",
"gene_symbol": "EPS8L2",
"hgnc_id": 21296,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-227+313_-227+333dupTCGGGGCCGGGCAGGGCCTCG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}