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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: 1-207751847-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207751847&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207751847,
"ref": "G",
"alt": "A",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000830828.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308069",
"gene_hgnc_id": null,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "ENST00000830828.1",
"protein_id": null,
"transcript_support_level": null,
"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": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308069",
"gene_hgnc_id": null,
"hgvs_c": "n.76C>T",
"hgvs_p": null,
"transcript": "ENST00000830831.1",
"protein_id": null,
"transcript_support_level": null,
"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": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "NM_172351.3",
"protein_id": "NP_758861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "ENST00000367042.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000367042.6",
"protein_id": "ENSP00000356009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "NM_172351.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000322875.8",
"protein_id": "ENSP00000313875.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000358170.6",
"protein_id": "ENSP00000350893.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000354848.5",
"protein_id": "ENSP00000346912.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000357714.5",
"protein_id": "ENSP00000350346.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000367041.5",
"protein_id": "ENSP00000356008.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
"hgvs_p": null,
"transcript": "ENST00000322918.9",
"protein_id": "ENSP00000314664.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"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": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.-221G>A",
"hgvs_p": null,
"transcript": "ENST00000469535.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "CD46",
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"hgvs_c": "c.-366G>A",
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"transcript": "NM_172359.3",
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"aa_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CD46",
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"hgvs_c": "c.-366G>A",
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"transcript": "NM_002389.4",
"protein_id": "NP_002380.3",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CD46",
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"hgvs_c": "c.-366G>A",
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},
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],
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},
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],
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"intron_rank": null,
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"gene_symbol": "CD46",
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],
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"gene_symbol": "CD46",
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CD46",
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"hgvs_c": "c.-366G>A",
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"transcript": "NM_172353.3",
"protein_id": "NP_758863.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CD46",
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"hgvs_c": "c.-366G>A",
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],
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],
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},
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],
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"intron_rank": null,
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"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
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"transcript": "NM_172361.3",
"protein_id": "NP_758871.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.-366G>A",
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"transcript": "NM_172350.3",
"protein_id": "NP_758860.1",
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},
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"phenotype_combined": "not provided",
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}
],
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}