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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: 14-50756742-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50756742&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50756742,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000530997.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "NM_020921.4",
"protein_id": "NP_065972.4",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2133,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 4520,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "ENST00000530997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "ENST00000530997.7",
"protein_id": "ENSP00000436092.2",
"transcript_support_level": 5,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2133,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 4520,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "NM_020921.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "ENST00000382041.7",
"protein_id": "ENSP00000371472.3",
"transcript_support_level": 1,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2090,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 4479,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-1875A>T",
"hgvs_p": null,
"transcript": "ENST00000382043.8",
"protein_id": "ENSP00000371474.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-1875A>T",
"hgvs_p": null,
"transcript": "ENST00000485005.2",
"protein_id": "ENSP00000431485.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "NM_182946.2",
"protein_id": "NP_891991.2",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2090,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 4520,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "NM_182944.3",
"protein_id": "NP_891989.3",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2046,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 4520,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "ENST00000453196.6",
"protein_id": "ENSP00000412391.1",
"transcript_support_level": 5,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2046,
"cds_start": 4288,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 4552,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "ENST00000476352.5",
"protein_id": "ENSP00000432924.1",
"transcript_support_level": 5,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1989,
"cds_start": 4288,
"cds_end": null,
"cds_length": 5970,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 10225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2758A>T",
"hgvs_p": "p.Ile920Leu",
"transcript": "ENST00000389869.7",
"protein_id": "ENSP00000374519.3",
"transcript_support_level": 5,
"aa_start": 920,
"aa_end": null,
"aa_length": 1580,
"cds_start": 2758,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4378A>T",
"hgvs_p": "p.Ile1460Leu",
"transcript": "XM_024449622.2",
"protein_id": "XP_024305390.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 2163,
"cds_start": 4378,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 4610,
"cdna_end": null,
"cdna_length": 10424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "XM_047431431.1",
"protein_id": "XP_047287387.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 2133,
"cds_start": 4288,
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"cds_length": 6402,
"cdna_start": 4520,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4198A>T",
"hgvs_p": "p.Ile1400Leu",
"transcript": "XM_047431432.1",
"protein_id": "XP_047287388.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 2103,
"cds_start": 4198,
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"cds_length": 6312,
"cdna_start": 4430,
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"cdna_length": 10244,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4378A>T",
"hgvs_p": "p.Ile1460Leu",
"transcript": "XM_047431433.1",
"protein_id": "XP_047287389.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4378A>T",
"hgvs_p": "p.Ile1460Leu",
"transcript": "XM_011536819.4",
"protein_id": "XP_011535121.1",
"transcript_support_level": null,
"aa_start": 1460,
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"cds_start": 4378,
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"cdna_start": 4610,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "XM_047431434.1",
"protein_id": "XP_047287390.1",
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "XM_047431435.1",
"protein_id": "XP_047287391.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
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"cds_start": 4288,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4378A>T",
"hgvs_p": "p.Ile1460Leu",
"transcript": "XM_047431436.1",
"protein_id": "XP_047287392.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 2019,
"cds_start": 4378,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4288A>T",
"hgvs_p": "p.Ile1430Leu",
"transcript": "XM_047431437.1",
"protein_id": "XP_047287393.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3622A>T",
"hgvs_p": "p.Ile1208Leu",
"transcript": "XM_047431438.1",
"protein_id": "XP_047287394.1",
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"aa_start": 1208,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
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"intron_rank": null,
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"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3532A>T",
"hgvs_p": "p.Ile1178Leu",
"transcript": "XM_047431439.1",
"protein_id": "XP_047287395.1",
"transcript_support_level": null,
"aa_start": 1178,
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"aa_length": 1881,
"cds_start": 3532,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-1875A>T",
"hgvs_p": null,
"transcript": "NM_016350.5",
"protein_id": "NP_057434.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 17,
"intron_rank_end": null,
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}
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