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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: 11-94420134-ATTTCTTCTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94420134&ref=ATTTCTTCTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 94420134,
"ref": "ATTTCTTCTT",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000323929.8",
"consequences": [
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2109_2117delAAGAAGAAA",
"hgvs_p": "p.Leu703_Asn706delinsPhe",
"transcript": "NM_005591.4",
"protein_id": "NP_005582.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 708,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "ENST00000323929.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2109_2117delAAGAAGAAA",
"hgvs_p": "p.Leu703_Asn706delinsPhe",
"transcript": "ENST00000323929.8",
"protein_id": "ENSP00000325863.4",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 708,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": "NM_005591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2025_2033delAAGAAGAAA",
"hgvs_p": "p.Leu675_Asn678delinsPhe",
"transcript": "ENST00000323977.7",
"protein_id": "ENSP00000326094.3",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 680,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2160_2168delAAGAAGAAA",
"hgvs_p": "p.Leu720_Asn723delinsPhe",
"transcript": "NM_001440460.1",
"protein_id": "NP_001427389.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 725,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2160_2168delAAGAAGAAA",
"hgvs_p": "p.Leu720_Asn723delinsPhe",
"transcript": "NM_001440461.1",
"protein_id": "NP_001427390.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 725,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 6999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2118_2126delAAGAAGAAA",
"hgvs_p": "p.Leu706_Asn709delinsPhe",
"transcript": "ENST00000407439.7",
"protein_id": "ENSP00000385614.3",
"transcript_support_level": 2,
"aa_start": 706,
"aa_end": null,
"aa_length": 711,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2109_2117delAAGAAGAAA",
"hgvs_p": "p.Leu703_Asn706delinsPhe",
"transcript": "NM_001440462.1",
"protein_id": "NP_001427391.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 708,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2109_2117delAAGAAGAAA",
"hgvs_p": "p.Leu703_Asn706delinsPhe",
"transcript": "NM_001440463.1",
"protein_id": "NP_001427392.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 708,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2106_2114delAAGAAGAAA",
"hgvs_p": "p.Leu702_Asn705delinsPhe",
"transcript": "NM_001330347.2",
"protein_id": "NP_001317276.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 707,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2106_2114delAAGAAGAAA",
"hgvs_p": "p.Leu702_Asn705delinsPhe",
"transcript": "NM_001440464.1",
"protein_id": "NP_001427393.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 707,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2106_2114delAAGAAGAAA",
"hgvs_p": "p.Leu702_Asn705delinsPhe",
"transcript": "NM_001440465.1",
"protein_id": "NP_001427394.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 707,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2106_2114delAAGAAGAAA",
"hgvs_p": "p.Leu702_Asn705delinsPhe",
"transcript": "ENST00000393241.8",
"protein_id": "ENSP00000376933.4",
"transcript_support_level": 5,
"aa_start": 702,
"aa_end": null,
"aa_length": 707,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2076_2084delAAGAAGAAA",
"hgvs_p": "p.Leu692_Asn695delinsPhe",
"transcript": "NM_001440466.1",
"protein_id": "NP_001427395.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 697,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2046_2054delAAGAAGAAA",
"hgvs_p": "p.Leu682_Asn685delinsPhe",
"transcript": "NM_001440467.1",
"protein_id": "NP_001427396.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 687,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 6778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2046_2054delAAGAAGAAA",
"hgvs_p": "p.Leu682_Asn685delinsPhe",
"transcript": "NM_001440468.1",
"protein_id": "NP_001427397.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 687,
"cds_start": 2046,
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"cdna_start": 2320,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2046_2054delAAGAAGAAA",
"hgvs_p": "p.Leu682_Asn685delinsPhe",
"transcript": "NM_001440469.1",
"protein_id": "NP_001427398.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 687,
"cds_start": 2046,
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"cds_length": 2064,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2043_2051delAAGAAGAAA",
"hgvs_p": "p.Leu681_Asn684delinsPhe",
"transcript": "NM_001440470.1",
"protein_id": "NP_001427399.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 686,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2034_2042delAAGAAGAAA",
"hgvs_p": "p.Leu678_Asn681delinsPhe",
"transcript": "NM_001440471.1",
"protein_id": "NP_001427400.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 683,
"cds_start": 2034,
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"cdna_start": 2416,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2031_2039delAAGAAGAAA",
"hgvs_p": "p.Leu677_Asn680delinsPhe",
"transcript": "NM_001440472.1",
"protein_id": "NP_001427401.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 682,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2148,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2028_2036delAAGAAGAAA",
"hgvs_p": "p.Leu676_Asn679delinsPhe",
"transcript": "NM_001440473.1",
"protein_id": "NP_001427402.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 681,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRE11",
"gene_hgnc_id": 7230,
"hgvs_c": "c.2025_2033delAAGAAGAAA",
"hgvs_p": "p.Leu675_Asn678delinsPhe",
"transcript": "NM_001440474.1",
"protein_id": "NP_001427403.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 680,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 6757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRRN",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
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}
],
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}