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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: 10-97481381-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97481381&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97481381,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000438925.7",
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "NM_022362.5",
"protein_id": "NP_071757.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": "ENST00000438925.7",
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "ENST00000438925.7",
"protein_id": "ENSP00000412698.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": "NM_022362.5",
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "ENST00000370782.6",
"protein_id": "ENSP00000359818.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "ENST00000355839.10",
"protein_id": "ENSP00000348097.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "n.113-339G>A",
"hgvs_p": null,
"transcript": "ENST00000415383.5",
"protein_id": "ENSP00000395045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3401,
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "NM_001351356.2",
"protein_id": "NP_001338285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": -4,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
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"cdna_length": 3616,
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "NM_001289405.2",
"protein_id": "NP_001276334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3568,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "NM_001289403.2",
"protein_id": "NP_001276332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "NM_001330128.2",
"protein_id": "NP_001317057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
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"cdna_length": 3205,
"mane_select": null,
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"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": 29,
"intron_rank": 2,
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"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.162-339G>A",
"hgvs_p": null,
"transcript": "ENST00000327238.14",
"protein_id": "ENSP00000320059.10",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 932,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "MMS19",
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"hgvs_c": "c.-360-339G>A",
"hgvs_p": null,
"transcript": "NM_001351357.2",
"protein_id": "NP_001338286.1",
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},
{
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],
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"transcript": "NM_001289404.2",
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},
{
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],
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"gene_symbol": "MMS19",
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},
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],
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"gene_symbol": "MMS19",
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],
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},
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],
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"gene_symbol": "MMS19",
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"gene_symbol": "MMS19",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "MMS19",
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"hgvs_c": "n.113-339G>A",
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"transcript": "ENST00000441194.5",
"protein_id": "ENSP00000413801.1",
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "MMS19",
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"hgvs_c": "c.162-339G>A",
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"transcript": "XM_017016516.3",
"protein_id": "XP_016872005.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMS19",
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"hgvs_c": "c.162-339G>A",
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},
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}