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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: 7-156791873-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=156791873&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 156791873,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000353442.10",
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.423+4516C>G",
"hgvs_p": null,
"transcript": "NM_022458.4",
"protein_id": "NP_071903.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": "ENST00000353442.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.423+4516C>G",
"hgvs_p": null,
"transcript": "ENST00000353442.10",
"protein_id": "ENSP00000326604.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": "NM_022458.4",
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.417+4516C>G",
"hgvs_p": null,
"transcript": "ENST00000415428.5",
"protein_id": "ENSP00000408256.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3457,
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.423+4516C>G",
"hgvs_p": null,
"transcript": "NM_001350953.2",
"protein_id": "NP_001337882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8073,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.423+4516C>G",
"hgvs_p": null,
"transcript": "NM_001363409.2",
"protein_id": "NP_001350338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7911,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.423+4516C>G",
"hgvs_p": null,
"transcript": "NM_001363410.2",
"protein_id": "NP_001350339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7788,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.360+4516C>G",
"hgvs_p": null,
"transcript": "NM_001363412.2",
"protein_id": "NP_001350341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
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"cds_length": 1248,
"cdna_start": null,
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"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.54+4516C>G",
"hgvs_p": null,
"transcript": "NM_001363411.2",
"protein_id": "NP_001350340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8048,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.144+4516C>G",
"hgvs_p": null,
"transcript": "NM_001350954.2",
"protein_id": "NP_001337883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LMBR1",
"gene_hgnc_id": 13243,
"hgvs_c": "c.-112+4516C>G",
"hgvs_p": null,
"transcript": "NM_001350955.2",
"protein_id": "NP_001337884.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "LMBR1",
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"hgvs_c": "c.-112+4516C>G",
"hgvs_p": null,
"transcript": "NM_001350956.2",
"protein_id": "NP_001337885.1",
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},
{
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],
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"gene_symbol": "LMBR1",
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},
{
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],
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"gene_symbol": "LMBR1",
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},
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],
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],
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},
{
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],
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"gene_symbol": "LMBR1",
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},
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},
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],
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"hgvs_c": "n.*245+4516C>G",
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"transcript": "ENST00000444719.5",
"protein_id": "ENSP00000393928.1",
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},
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],
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"intron_rank": 1,
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],
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},
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],
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},
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],
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"intron_rank": 5,
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"gene_symbol": "LMBR1",
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"hgvs_c": "n.613+4516C>G",
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},
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"phenotype_combined": "not provided",
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}