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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: 19-49673914-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49673914&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49673914,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant",
"transcript": "ENST00000246784.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_138639.2",
"protein_id": "NP_619580.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "ENST00000246784.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "ENST00000246784.8",
"protein_id": "ENSP00000246784.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "NM_138639.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "ENST00000246785.7",
"protein_id": "ENSP00000246785.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000619007.4",
"protein_id": "ENSP00000483272.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000600947.5",
"protein_id": "ENSP00000470644.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*224G>A",
"hgvs_p": null,
"transcript": "ENST00000594157.5",
"protein_id": "ENSP00000469216.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_138639.2",
"protein_id": "NP_619580.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "ENST00000246784.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "ENST00000246784.8",
"protein_id": "ENSP00000246784.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": "NM_138639.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "ENST00000246785.7",
"protein_id": "ENSP00000246785.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000619007.4",
"protein_id": "ENSP00000483272.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000600947.5",
"protein_id": "ENSP00000470644.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*224G>A",
"hgvs_p": null,
"transcript": "ENST00000594157.5",
"protein_id": "ENSP00000469216.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_001040668.2",
"protein_id": "NP_001035758.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
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"cds_length": 750,
"cdna_start": null,
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"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "NM_001282520.1",
"protein_id": "NP_001269449.1",
"transcript_support_level": null,
"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": [
"splice_region_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "NM_001282519.2",
"protein_id": "NP_001269448.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000698555.1",
"protein_id": "ENSP00000513797.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000698558.1",
"protein_id": "ENSP00000513800.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_001282516.2",
"protein_id": "NP_001269445.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
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"cds_length": 480,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "ENST00000698554.1",
"protein_id": "ENSP00000513796.1",
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},
{
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"consequences": [
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],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "BCL2L12",
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"hgvs_c": "c.*166G>A",
"hgvs_p": null,
"transcript": "NM_001385706.1",
"protein_id": "NP_001372635.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*166G>A",
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"transcript": "ENST00000698557.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000698553.1",
"protein_id": "ENSP00000513795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
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"cdna_length": 1425,
"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": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L12",
"gene_hgnc_id": 13787,
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000698556.1",
"protein_id": "ENSP00000513798.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 137,
"cds_start": -4,
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}