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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: 5-94839676-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=94839676&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 94839676,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000515393.6",
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2436+28657A>T",
"hgvs_p": null,
"transcript": "NM_024717.7",
"protein_id": "NP_078993.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": "ENST00000515393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2436+28657A>T",
"hgvs_p": null,
"transcript": "ENST00000515393.6",
"protein_id": "ENSP00000424126.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": "NM_024717.7",
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1773+28657A>T",
"hgvs_p": null,
"transcript": "ENST00000312216.12",
"protein_id": "ENSP00000308957.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2337,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2358+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393535.1",
"protein_id": "NP_001380464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7247,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2298+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393536.1",
"protein_id": "NP_001380465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7187,
"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": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2259+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393537.1",
"protein_id": "NP_001380466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": -4,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7148,
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1773+28657A>T",
"hgvs_p": null,
"transcript": "NM_001002796.5",
"protein_id": "NP_001002796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
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"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6306,
"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": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1773+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393538.1",
"protein_id": "NP_001380467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3942,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1695+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393539.1",
"protein_id": "NP_001380468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1773+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393540.1",
"protein_id": "NP_001380469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 15,
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"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1641+28657A>T",
"hgvs_p": null,
"transcript": "NM_001393541.1",
"protein_id": "NP_001380470.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MCTP1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MCTP1",
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"hgvs_c": "c.1635+28657A>T",
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"transcript": "NM_001393543.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "MCTP1",
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"hgvs_c": "c.1596+28657A>T",
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"transcript": "NM_001393544.1",
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},
{
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],
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"gene_symbol": "MCTP1",
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"hgvs_c": "c.1590+28657A>T",
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},
{
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],
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"gene_symbol": "MCTP1",
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},
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],
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"gene_symbol": "MCTP1",
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"hgvs_c": "c.1656+28657A>T",
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"protein_id": "NP_001380476.1",
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},
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],
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"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1635+28657A>T",
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"transcript": "NM_001297777.3",
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},
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],
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"gene_symbol": "MCTP1",
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"hgvs_c": "c.1635+28657A>T",
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],
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},
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],
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"gene_symbol": "MCTP1",
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},
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"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.984+28657A>T",
"hgvs_p": null,
"transcript": "ENST00000505078.5",
"protein_id": "ENSP00000426417.1",
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"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1419+28657A>T",
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"transcript": "ENST00000512425.5",
"protein_id": "ENSP00000431075.1",
"transcript_support_level": 5,
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