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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: 12-124788217-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124788217&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 124788217,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001367981.1",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_005505.5",
"protein_id": "NP_005496.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261693.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005505.5"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000261693.11",
"protein_id": "ENSP00000261693.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005505.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261693.11"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000546215.5",
"protein_id": "ENSP00000442862.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546215.5"
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.1518-760T>A",
"hgvs_p": null,
"transcript": "ENST00000535005.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000535005.5"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_001367981.1",
"protein_id": "NP_001354910.1",
"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_001367981.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000415380.6",
"protein_id": "ENSP00000414979.2",
"transcript_support_level": 2,
"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": "ENST00000415380.6"
},
{
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1323-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877834.1",
"protein_id": "ENSP00000547893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877834.1"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1080-760T>A",
"hgvs_p": null,
"transcript": "NM_001367982.1",
"protein_id": "NP_001354911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367982.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_001367983.1",
"protein_id": "NP_001354912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367983.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877833.1",
"protein_id": "ENSP00000547892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877833.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_001367989.1",
"protein_id": "NP_001354918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367989.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877826.1",
"protein_id": "ENSP00000547885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877826.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877835.1",
"protein_id": "ENSP00000547894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
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"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877835.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000964694.1",
"protein_id": "ENSP00000634753.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964694.1"
},
{
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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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_001367984.1",
"protein_id": "NP_001354913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367984.1"
},
{
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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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877829.1",
"protein_id": "ENSP00000547888.1",
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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": "ENST00000877829.1"
},
{
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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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1197-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877837.1",
"protein_id": "ENSP00000547896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
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"cds_length": 1524,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877837.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "NM_001082959.2",
"protein_id": "NP_001076428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"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_001082959.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1203-760T>A",
"hgvs_p": null,
"transcript": "ENST00000339570.9",
"protein_id": "ENSP00000343795.4",
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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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": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1179-760T>A",
"hgvs_p": null,
"transcript": "NM_001367985.1",
"protein_id": "NP_001354914.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367985.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1179-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877827.1",
"protein_id": "ENSP00000547886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
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"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877827.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1179-760T>A",
"hgvs_p": null,
"transcript": "ENST00000877832.1",
"protein_id": "ENSP00000547891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877832.1"
},
{
"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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