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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: 16-15726937-GCTTCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15726937&ref=GCTTCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15726937,
"ref": "GCTTCTT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001040114.2",
"consequences": [
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002474.3"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300036.6"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3784_3789delAAGAAG",
"hgvs_p": "p.Lys1262_Lys1263del",
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3784,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": "protein_coding",
"feature": "NM_001040113.2"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3784_3789delAAGAAG",
"hgvs_p": "p.Lys1262_Lys1263del",
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3784,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": "protein_coding",
"feature": "ENST00000452625.7"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3784_3789delAAGAAG",
"hgvs_p": "p.Lys1262_Lys1263del",
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3784,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396324.7"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000576790.7",
"protein_id": "ENSP00000458731.1",
"transcript_support_level": 1,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576790.7"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3811_3816delAAGAAG",
"hgvs_p": "p.Lys1271_Lys1272del",
"transcript": "ENST00000911137.1",
"protein_id": "ENSP00000581196.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1988,
"cds_start": 3811,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911137.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000911136.1",
"protein_id": "ENSP00000581195.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1985,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911136.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3790_3795delAAGAAG",
"hgvs_p": "p.Lys1264_Lys1265del",
"transcript": "ENST00000963704.1",
"protein_id": "ENSP00000633763.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1981,
"cds_start": 3790,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963704.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3784_3789delAAGAAG",
"hgvs_p": "p.Lys1262_Lys1263del",
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3784,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040114.2"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3784_3789delAAGAAG",
"hgvs_p": "p.Lys1262_Lys1263del",
"transcript": "ENST00000911133.1",
"protein_id": "ENSP00000581192.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1977,
"cds_start": 3784,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911133.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713757.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000911134.1",
"protein_id": "ENSP00000581193.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911134.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000911140.1",
"protein_id": "ENSP00000581199.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911140.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "ENST00000963701.1",
"protein_id": "ENSP00000633760.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3763,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963701.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3736_3741delAAGAAG",
"hgvs_p": "p.Lys1246_Lys1247del",
"transcript": "ENST00000963702.1",
"protein_id": "ENSP00000633761.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1963,
"cds_start": 3736,
"cds_end": null,
"cds_length": 5892,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963702.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3670_3675delAAGAAG",
"hgvs_p": "p.Lys1224_Lys1225del",
"transcript": "ENST00000911139.1",
"protein_id": "ENSP00000581198.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3670,
"cds_end": null,
"cds_length": 5826,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911139.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3670_3675delAAGAAG",
"hgvs_p": "p.Lys1224_Lys1225del",
"transcript": "ENST00000963703.1",
"protein_id": "ENSP00000633762.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3670,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963703.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3667_3672delAAGAAG",
"hgvs_p": "p.Lys1223_Lys1224del",
"transcript": "ENST00000911138.1",
"protein_id": "ENSP00000581197.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1940,
"cds_start": 3667,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911138.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3763_3768delAAGAAG",
"hgvs_p": "p.Lys1255_Lys1256del",
"transcript": "NM_022844.3",
"protein_id": "NP_074035.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3763,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022844.3"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3589_3594delAAGAAG",
"hgvs_p": "p.Lys1197_Lys1198del",
"transcript": "ENST00000911135.1",
"protein_id": "ENSP00000581194.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3589,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911135.1"
},
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{
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"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
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}
],
"message": null
}