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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: 11-83532724-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83532724&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83532724,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001142699.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2177T>C",
"hgvs_p": "p.Val726Ala",
"transcript": "NM_001142699.3",
"protein_id": "NP_001136171.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 975,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "ENST00000376104.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2177T>C",
"hgvs_p": "p.Val726Ala",
"transcript": "ENST00000376104.7",
"protein_id": "ENSP00000365272.2",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 975,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "NM_001142699.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1862T>C",
"hgvs_p": "p.Val621Ala",
"transcript": "ENST00000398309.6",
"protein_id": "ENSP00000381355.2",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 870,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 7890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1862T>C",
"hgvs_p": "p.Val621Ala",
"transcript": "ENST00000532653.5",
"protein_id": "ENSP00000435849.1",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 852,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.308T>C",
"hgvs_p": "p.Val103Ala",
"transcript": "ENST00000426717.6",
"protein_id": "ENSP00000393049.2",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 334,
"cds_start": 308,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2288T>C",
"hgvs_p": "p.Val763Ala",
"transcript": "ENST00000650630.1",
"protein_id": "ENSP00000497771.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2288,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2213T>C",
"hgvs_p": "p.Val738Ala",
"transcript": "NM_001351274.2",
"protein_id": "NP_001338203.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 969,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 8537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2213T>C",
"hgvs_p": "p.Val738Ala",
"transcript": "ENST00000706226.1",
"protein_id": "ENSP00000516284.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 969,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2210T>C",
"hgvs_p": "p.Val737Ala",
"transcript": "NM_001351275.2",
"protein_id": "NP_001338204.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 968,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 3966,
"cdna_end": null,
"cdna_length": 9469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2210T>C",
"hgvs_p": "p.Val737Ala",
"transcript": "ENST00000706233.1",
"protein_id": "ENSP00000516288.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 968,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 9410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Val660Ala",
"transcript": "NM_001206769.2",
"protein_id": "NP_001193698.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 909,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Val660Ala",
"transcript": "ENST00000280241.12",
"protein_id": "ENSP00000280241.8",
"transcript_support_level": 5,
"aa_start": 660,
"aa_end": null,
"aa_length": 909,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Val660Ala",
"transcript": "NM_001377966.1",
"protein_id": "NP_001364895.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 903,
"cds_start": 1979,
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"cds_length": 2712,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Val660Ala",
"transcript": "NM_001377967.1",
"protein_id": "NP_001364896.1",
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"aa_end": null,
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"cds_start": 1979,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1979T>C",
"hgvs_p": "p.Val660Ala",
"transcript": "ENST00000706243.1",
"protein_id": "ENSP00000516291.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 891,
"cds_start": 1979,
"cds_end": null,
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"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1922T>C",
"hgvs_p": "p.Val641Ala",
"transcript": "ENST00000648622.1",
"protein_id": "ENSP00000497475.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
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"cds_start": 1922,
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"cdna_start": 2440,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1922T>C",
"hgvs_p": "p.Val641Ala",
"transcript": "ENST00000706267.1",
"protein_id": "ENSP00000516313.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 872,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1919T>C",
"hgvs_p": "p.Val640Ala",
"transcript": "NM_001351276.2",
"protein_id": "NP_001338205.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 871,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 7967,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1862T>C",
"hgvs_p": "p.Val621Ala",
"transcript": "NM_001364.3",
"protein_id": "NP_001355.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 870,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1862T>C",
"hgvs_p": "p.Val621Ala",
"transcript": "NM_001377968.1",
"protein_id": "NP_001364897.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 866,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1862T>C",
"hgvs_p": "p.Val621Ala",
"transcript": "ENST00000524982.5",
"protein_id": "ENSP00000432894.1",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 866,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1823T>C",
"hgvs_p": "p.Val608Ala",
"transcript": "NM_001377970.1",
"protein_id": "NP_001364899.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 857,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 7572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1823T>C",
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