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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: 17-50977078-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50977078&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50977078,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001130528.3",
"consequences": [
{
"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": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3523+30A>T",
"hgvs_p": null,
"transcript": "NM_001130528.3",
"protein_id": "NP_001124000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262013.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130528.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3523+30A>T",
"hgvs_p": null,
"transcript": "ENST00000262013.12",
"protein_id": "ENSP00000262013.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130528.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262013.12"
},
{
"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": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3493+30A>T",
"hgvs_p": null,
"transcript": "ENST00000505279.5",
"protein_id": "ENSP00000426900.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505279.5"
},
{
"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": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3481+30A>T",
"hgvs_p": null,
"transcript": "ENST00000357122.8",
"protein_id": "ENSP00000349636.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": null,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357122.8"
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3550+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855108.1",
"protein_id": "ENSP00000525167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": null,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855108.1"
},
{
"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": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3535+30A>T",
"hgvs_p": null,
"transcript": "ENST00000948172.1",
"protein_id": "ENSP00000618231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1338,
"cds_start": null,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948172.1"
},
{
"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": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3526+30A>T",
"hgvs_p": null,
"transcript": "ENST00000948174.1",
"protein_id": "ENSP00000618233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": null,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948174.1"
},
{
"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": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3523+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855104.1",
"protein_id": "ENSP00000525163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1334,
"cds_start": null,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855104.1"
},
{
"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": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3493+30A>T",
"hgvs_p": null,
"transcript": "ENST00000948171.1",
"protein_id": "ENSP00000618230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": null,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948171.1"
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3484+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855103.1",
"protein_id": "ENSP00000525162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855103.1"
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3481+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855101.1",
"protein_id": "ENSP00000525160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": null,
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"cds_length": 3963,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855101.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3496+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855109.1",
"protein_id": "ENSP00000525168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": null,
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"cds_length": 3939,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855109.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3493+30A>T",
"hgvs_p": null,
"transcript": "NM_001130527.3",
"protein_id": "NP_001123999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130527.3"
},
{
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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": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3484+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855106.1",
"protein_id": "ENSP00000525165.1",
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"cdna_start": null,
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"feature": "ENST00000855106.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3445+30A>T",
"hgvs_p": null,
"transcript": "ENST00000948175.1",
"protein_id": "ENSP00000618234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948175.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3481+30A>T",
"hgvs_p": null,
"transcript": "NM_003971.6",
"protein_id": "NP_003962.3",
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"biotype": "protein_coding",
"feature": "NM_003971.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3481+30A>T",
"hgvs_p": null,
"transcript": "ENST00000933646.1",
"protein_id": "ENSP00000603705.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000933646.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3478+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855102.1",
"protein_id": "ENSP00000525161.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 26,
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"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3436+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855110.1",
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3448+30A>T",
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"transcript": "ENST00000933647.1",
"protein_id": "ENSP00000603706.1",
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},
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"consequences": [
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],
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"intron_rank_end": null,
"gene_symbol": "SPAG9",
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"hgvs_c": "c.3448+30A>T",
"hgvs_p": null,
"transcript": "ENST00000948176.1",
"protein_id": "ENSP00000618235.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948176.1"
},
{
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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": 26,
"intron_rank_end": null,
"gene_symbol": "SPAG9",
"gene_hgnc_id": 14524,
"hgvs_c": "c.3436+30A>T",
"hgvs_p": null,
"transcript": "ENST00000855105.1",
"protein_id": "ENSP00000525164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855105.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
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}