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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: 12-103389536-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103389536&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103389536,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_198521.5",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "NM_198521.5",
"protein_id": "NP_940923.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000548883.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198521.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "ENST00000548883.6",
"protein_id": "ENSP00000447908.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198521.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548883.6"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "n.147+12071A>G",
"hgvs_p": null,
"transcript": "ENST00000551134.5",
"protein_id": "ENSP00000449447.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551134.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "NM_001099336.3",
"protein_id": "NP_001092806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099336.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "ENST00000378113.7",
"protein_id": "ENSP00000367353.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378113.7"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.30+4846A>G",
"hgvs_p": null,
"transcript": "NM_001386868.1",
"protein_id": "NP_001373797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386868.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-55+12071A>G",
"hgvs_p": null,
"transcript": "NM_001386869.1",
"protein_id": "NP_001373798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386869.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-139-10744A>G",
"hgvs_p": null,
"transcript": "ENST00000548048.5",
"protein_id": "ENSP00000449362.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548048.5"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-234+12071A>G",
"hgvs_p": null,
"transcript": "NM_001278419.3",
"protein_id": "NP_001265348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278419.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-234+12071A>G",
"hgvs_p": null,
"transcript": "NM_001278420.3",
"protein_id": "NP_001265349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278420.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-27+12071A>G",
"hgvs_p": null,
"transcript": "NM_001386871.1",
"protein_id": "NP_001373800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
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"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386871.1"
},
{
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"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": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "ENST00000552578.1",
"protein_id": "ENSP00000447795.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
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"cds_length": 623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552578.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.-55+12071A>G",
"hgvs_p": null,
"transcript": "NM_001386872.1",
"protein_id": "NP_001373801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
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"cds_length": 510,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386872.1"
},
{
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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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "NM_001386867.1",
"protein_id": "NP_001373796.1",
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"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_001386867.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.204+12071A>G",
"hgvs_p": null,
"transcript": "XM_047428802.1",
"protein_id": "XP_047284758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": 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": "XM_047428802.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "XM_011538292.3",
"protein_id": "XP_011536594.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538292.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "XM_011538293.3",
"protein_id": "XP_011536595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538293.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "XM_017019276.2",
"protein_id": "XP_016874765.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 360,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017019276.2"
},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.147+12071A>G",
"hgvs_p": null,
"transcript": "XM_047428803.1",
"protein_id": "XP_047284759.1",
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"feature": "XM_047428803.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.136-20538A>G",
"hgvs_p": null,
"transcript": "XM_011538294.3",
"protein_id": "XP_011536596.1",
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"biotype": "protein_coding",
"feature": "XM_011538294.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.72+12071A>G",
"hgvs_p": null,
"transcript": "XM_011538295.2",
"protein_id": "XP_011536597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
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"cds_length": 1008,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538295.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C12orf42",
"gene_hgnc_id": 24729,
"hgvs_c": "c.30+4846A>G",
"hgvs_p": null,
"transcript": "XM_011538297.3",
"protein_id": "XP_011536599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
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"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538297.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}
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}