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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: 5-150375799-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150375799&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150375799,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001371623.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Ile",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1552,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000394269.7",
"protein_id": "ENSP00000377811.3",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 958,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "NM_001135244.2",
"protein_id": "NP_001128716.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 1451,
"cds_start": 1783,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000439160.6",
"protein_id": "ENSP00000406888.2",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 1451,
"cds_start": 1783,
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"cds_length": 4356,
"cdna_start": 1816,
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"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "NM_001195141.2",
"protein_id": "NP_001182070.1",
"transcript_support_level": null,
"aa_start": 595,
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"aa_length": 1450,
"cds_start": 1783,
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},
{
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"consequences": [
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],
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"exon_count": 26,
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"gene_symbol": "TCOF1",
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"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000427724.7",
"protein_id": "ENSP00000390717.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "TCOF1",
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"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Ile",
"transcript": "NM_001135245.2",
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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": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Ile",
"transcript": "NM_000356.4",
"protein_id": "NP_000347.2",
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},
{
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],
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"exon_count": 26,
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"gene_symbol": "TCOF1",
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"hgvs_c": "c.1552G>A",
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},
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Val518Ile",
"transcript": "ENST00000650162.1",
"protein_id": "ENSP00000497075.1",
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"aa_start": 518,
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"feature": null
},
{
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],
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"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Val357Ile",
"transcript": "ENST00000674413.1",
"protein_id": "ENSP00000501343.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1238,
"cds_start": 1069,
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},
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"gene_symbol": "TCOF1",
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"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "ENST00000513538.2",
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"intron_rank": null,
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},
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"gene_symbol": "TCOF1",
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"transcript": "XM_005268502.5",
"protein_id": "XP_005268559.1",
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"aa_start": 595,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Val595Ile",
"transcript": "XM_005268503.5",
"protein_id": "XP_005268560.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
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"cds_start": 1783,
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"cdna_start": 1833,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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