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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: 6-143758717-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=143758717&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 143758717,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001100164.2",
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.455-1684A>T",
"hgvs_p": null,
"transcript": "NM_001100164.2",
"protein_id": "NP_001093634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440869.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100164.2"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.455-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000440869.7",
"protein_id": "ENSP00000417038.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100164.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440869.7"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.422-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000427704.6",
"protein_id": "ENSP00000391763.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427704.6"
},
{
"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.454+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000367582.7",
"protein_id": "ENSP00000356554.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367582.7"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.455-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000960137.1",
"protein_id": "ENSP00000630196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960137.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.449-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000960142.1",
"protein_id": "ENSP00000630201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960142.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.422-1684A>T",
"hgvs_p": null,
"transcript": "NM_014721.3",
"protein_id": "NP_055536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014721.3"
},
{
"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.625+4805A>T",
"hgvs_p": null,
"transcript": "NM_001394736.1",
"protein_id": "NP_001381665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394736.1"
},
{
"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.625+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000367584.8",
"protein_id": "ENSP00000356556.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367584.8"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.374-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000960136.1",
"protein_id": "ENSP00000630195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960136.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.287-1684A>T",
"hgvs_p": null,
"transcript": "ENST00000940786.1",
"protein_id": "ENSP00000610845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
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"cds_length": 1770,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000940786.1"
},
{
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"canonical": false,
"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.454+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000888549.1",
"protein_id": "ENSP00000558608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888549.1"
},
{
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"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.454+4805A>T",
"hgvs_p": null,
"transcript": "NM_001100165.2",
"protein_id": "NP_001093635.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 565,
"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_001100165.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
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"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.454+4805A>T",
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"transcript": "ENST00000888547.1",
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"biotype": "protein_coding",
"feature": "ENST00000888547.1"
},
{
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"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.448+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000960139.1",
"protein_id": "ENSP00000630198.1",
"transcript_support_level": null,
"aa_start": null,
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"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": "ENST00000960139.1"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
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"gene_symbol": "PHACTR2",
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"hgvs_c": "c.454+4805A>T",
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"biotype": "protein_coding",
"feature": "ENST00000888546.1"
},
{
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"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.421+4805A>T",
"hgvs_p": null,
"transcript": "NM_001100166.2",
"protein_id": "NP_001093636.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001100166.2"
},
{
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"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": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.421+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000305766.10",
"protein_id": "ENSP00000305530.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.394+4865A>T",
"hgvs_p": null,
"transcript": "ENST00000888548.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
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"hgvs_c": "c.373+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000888543.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.454+4805A>T",
"hgvs_p": null,
"transcript": "ENST00000960141.1",
"protein_id": "ENSP00000630200.1",
"transcript_support_level": null,
"aa_start": null,
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"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": "ENST00000960141.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHACTR2",
"gene_hgnc_id": 20956,
"hgvs_c": "c.296-6529A>T",
"hgvs_p": null,
"transcript": "ENST00000960138.1",
"protein_id": "ENSP00000630197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"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": "ENST00000960138.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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}