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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: 3-152417319-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=152417319&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 152417319,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000324210.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "NM_021038.5",
"protein_id": "NP_066368.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "ENST00000324210.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000324210.10",
"protein_id": "ENSP00000319429.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "NM_021038.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000463374.5",
"protein_id": "ENSP00000418108.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000355460.6",
"protein_id": "ENSP00000347637.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.174+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000493459.5",
"protein_id": "ENSP00000419347.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000492948.5",
"protein_id": "ENSP00000420103.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000485509.5",
"protein_id": "ENSP00000418876.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000465907.6",
"protein_id": "ENSP00000417630.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": -4,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MBNL1",
"gene_hgnc_id": 6923,
"hgvs_c": "c.345+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000485910.5",
"protein_id": "ENSP00000418427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "MBNL1",
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"hgvs_c": "c.54+2208G>T",
"hgvs_p": null,
"transcript": "ENST00000478535.1",
"protein_id": "ENSP00000418508.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
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"gene_symbol": "MBNL1",
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"hgvs_c": "c.438+2208G>T",
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"transcript": "NM_001376818.1",
"protein_id": "NP_001363747.1",
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},
{
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],
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},
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],
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"gene_symbol": "MBNL1",
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],
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"gene_symbol": "MBNL1",
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},
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],
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},
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],
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"gene_symbol": "MBNL1",
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},
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],
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],
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],
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"gene_symbol": "MBNL1",
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"hgvs_c": "c.345+2208G>T",
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"transcript": "ENST00000282488.11",
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},
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],
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"gene_symbol": "MBNL1",
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"transcript": "NM_001376824.1",
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}