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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: 2-191379667-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191379667&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191379667,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001130158.3",
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "NM_001130158.3",
"protein_id": "NP_001123630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "ENST00000392318.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130158.3"
},
{
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000392318.8",
"protein_id": "ENSP00000376132.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "NM_001130158.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392318.8"
},
{
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000304164.8",
"protein_id": "ENSP00000306382.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304164.8"
},
{
"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": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000339514.8",
"protein_id": "ENSP00000341903.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": null,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339514.8"
},
{
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "NM_001161819.3",
"protein_id": "NP_001155291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161819.3"
},
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000906667.1",
"protein_id": "ENSP00000576726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906667.1"
},
{
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000906676.1",
"protein_id": "ENSP00000576735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906676.1"
},
{
"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": 33,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000940477.1",
"protein_id": "ENSP00000610536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940477.1"
},
{
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000940478.1",
"protein_id": "ENSP00000610537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
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"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940478.1"
},
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000940479.1",
"protein_id": "ENSP00000610538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
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"cds_length": 3411,
"cdna_start": null,
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"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940479.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1771A>C",
"hgvs_p": null,
"transcript": "ENST00000906668.1",
"protein_id": "ENSP00000576727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
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"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "NM_001330237.2",
"protein_id": "NP_001317166.1",
"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_001330237.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
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"hgvs_c": "c.1186-1795A>C",
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"transcript": "NM_001330238.2",
"protein_id": "NP_001317167.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001330238.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MYO1B",
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"hgvs_c": "c.1186-1795A>C",
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"transcript": "ENST00000392316.5",
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"feature": "ENST00000392316.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 13,
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"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
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"transcript": "ENST00000906657.1",
"protein_id": "ENSP00000576716.1",
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"feature": "ENST00000906657.1"
},
{
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],
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"gene_symbol": "MYO1B",
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"biotype": "protein_coding",
"feature": "ENST00000906658.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 13,
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"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000906661.1",
"protein_id": "ENSP00000576720.1",
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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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000906662.1",
"protein_id": "ENSP00000576721.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "MYO1B",
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},
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],
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"intron_rank_end": null,
"gene_symbol": "MYO1B",
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"hgvs_c": "c.1186-1795A>C",
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"transcript": "ENST00000906673.1",
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},
{
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"consequences": [
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],
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"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000940474.1",
"protein_id": "ENSP00000610533.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000940474.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1186-1795A>C",
"hgvs_p": null,
"transcript": "ENST00000955854.1",
"protein_id": "ENSP00000625913.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": "ENST00000955854.1"
},
{
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}