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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: 17-43906130-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43906130&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43906130,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001278381.2",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "NM_005374.5",
"protein_id": "NP_005365.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269095.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005374.5"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000269095.9",
"protein_id": "ENSP00000269095.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005374.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269095.9"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000461854.5",
"protein_id": "ENSP00000428286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": null,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461854.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-3+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000523220.5",
"protein_id": "ENSP00000428468.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523220.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "NM_001278381.2",
"protein_id": "NP_001265310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278381.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000612133.4",
"protein_id": "ENSP00000478528.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612133.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-1670C>G",
"hgvs_p": null,
"transcript": "ENST00000881428.1",
"protein_id": "ENSP00000551488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000881432.1",
"protein_id": "ENSP00000551491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-385C>G",
"hgvs_p": null,
"transcript": "ENST00000967294.1",
"protein_id": "ENSP00000637353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000521178.5",
"protein_id": "ENSP00000430443.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000522172.5",
"protein_id": "ENSP00000430349.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
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"cds_length": 220,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522172.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000518478.1",
"protein_id": "ENSP00000429364.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
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"cds_length": 95,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518478.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.103-1637C>G",
"hgvs_p": null,
"transcript": "NM_001278370.2",
"protein_id": "NP_001265299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278370.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
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"hgvs_c": "c.103-1637C>G",
"hgvs_p": null,
"transcript": "ENST00000518766.5",
"protein_id": "ENSP00000428182.1",
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"feature": "ENST00000518766.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "NM_001278372.2",
"protein_id": "NP_001265301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278372.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000967291.1",
"protein_id": "ENSP00000637350.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000967291.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+425C>G",
"hgvs_p": null,
"transcript": "ENST00000967293.1",
"protein_id": "ENSP00000637352.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967293.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-34+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000967292.1",
"protein_id": "ENSP00000637351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000967292.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-3+3412C>G",
"hgvs_p": null,
"transcript": "NM_001278371.2",
"protein_id": "NP_001265300.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001278371.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
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"hgvs_c": "c.-3+1344C>G",
"hgvs_p": null,
"transcript": "NM_001278373.2",
"protein_id": "NP_001265302.1",
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"biotype": "protein_coding",
"feature": "NM_001278373.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-3+1344C>G",
"hgvs_p": null,
"transcript": "ENST00000523501.5",
"protein_id": "ENSP00000430540.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"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": "ENST00000523501.5"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.-3+3412C>G",
"hgvs_p": null,
"transcript": "ENST00000622681.4",
"protein_id": "ENSP00000480071.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622681.4"
},
{
"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": 12,
"intron_rank": 1,
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}