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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: 8-41661944-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=41661944&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 41661944,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000289734.13",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5479-3T>A",
"hgvs_p": null,
"transcript": "NM_000037.4",
"protein_id": "NP_000028.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": -4,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "ENST00000289734.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5479-3T>A",
"hgvs_p": null,
"transcript": "ENST00000289734.13",
"protein_id": "ENSP00000289734.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": -4,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "NM_000037.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5602-3T>A",
"hgvs_p": null,
"transcript": "ENST00000265709.14",
"protein_id": "ENSP00000265709.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": -4,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5479-3T>A",
"hgvs_p": null,
"transcript": "ENST00000347528.8",
"protein_id": "ENSP00000339620.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1881,
"cds_start": -4,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-3T>A",
"hgvs_p": null,
"transcript": "ENST00000314214.12",
"protein_id": "ENSP00000319123.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-3T>A",
"hgvs_p": null,
"transcript": "ENST00000522231.5",
"protein_id": "ENSP00000428750.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.303+1715T>A",
"hgvs_p": null,
"transcript": "ENST00000348036.8",
"protein_id": "ENSP00000297744.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "n.2873-3T>A",
"hgvs_p": null,
"transcript": "ENST00000524227.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5698-3T>A",
"hgvs_p": null,
"transcript": "ENST00000705521.1",
"protein_id": "ENSP00000516136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5602-3T>A",
"hgvs_p": null,
"transcript": "NM_001142446.2",
"protein_id": "NP_001135918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": -4,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5479-3T>A",
"hgvs_p": null,
"transcript": "NM_020476.3",
"protein_id": "NP_065209.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1881,
"cds_start": -4,
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"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5479-3T>A",
"hgvs_p": null,
"transcript": "NM_020475.3",
"protein_id": "NP_065208.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1856,
"cds_start": -4,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
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"cdna_length": 8157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.5431-3T>A",
"hgvs_p": null,
"transcript": "ENST00000705522.1",
"protein_id": "ENSP00000516137.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1854,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6004,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 40,
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"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4993-3T>A",
"hgvs_p": null,
"transcript": "NM_020477.3",
"protein_id": "NP_065210.2",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.2956-3T>A",
"hgvs_p": null,
"transcript": "ENST00000520299.5",
"protein_id": "ENSP00000430174.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1039,
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.1492-3T>A",
"hgvs_p": null,
"transcript": "ENST00000645531.1",
"protein_id": "ENSP00000493840.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-3T>A",
"hgvs_p": null,
"transcript": "NM_001142445.2",
"protein_id": "NP_001135917.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 156,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3224,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-3T>A",
"hgvs_p": null,
"transcript": "ENST00000522543.6",
"protein_id": "ENSP00000430368.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"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": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-3T>A",
"hgvs_p": null,
"transcript": "NM_020478.5",
"protein_id": "NP_065211.2",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.304-380T>A",
"hgvs_p": null,
"transcript": "ENST00000335651.6",
"protein_id": "ENSP00000335031.6",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK1",
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"hgvs_c": "c.303+1715T>A",
"hgvs_p": null,
"transcript": "NM_020480.5",
"protein_id": "NP_065213.2",
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"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "n.488-3T>A",
"hgvs_p": null,
"transcript": "ENST00000518715.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253389",
"gene_hgnc_id": null,
"hgvs_c": "n.402+235A>T",
"hgvs_p": null,
"transcript": "ENST00000520418.2",
"protein_id": null,
"transcript_support_level": 3,
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],
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Strong"
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{
"score": -2,
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],
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}