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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: 14-74911482-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74911482&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74911482,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000557413.6",
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "NM_031464.5",
"protein_id": "NP_113652.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": "ENST00000557413.6",
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "ENST00000557413.6",
"protein_id": "ENSP00000450567.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": "NM_031464.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "n.439-102C>T",
"hgvs_p": null,
"transcript": "ENST00000555009.5",
"protein_id": "ENSP00000450660.1",
"transcript_support_level": 1,
"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": 2457,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "n.398C>T",
"hgvs_p": null,
"transcript": "ENST00000554834.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 812,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "NM_001370252.1",
"protein_id": "NP_001357181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2689,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "ENST00000354625.6",
"protein_id": "ENSP00000346644.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5195,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "ENST00000555647.5",
"protein_id": "ENSP00000452027.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3309,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.487-102C>T",
"hgvs_p": null,
"transcript": "NM_001370253.1",
"protein_id": "NP_001357182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5587,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "NM_001370255.1",
"protein_id": "NP_001357184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "NM_001370256.1",
"protein_id": "NP_001357185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
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"cds_length": 954,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.439-102C>T",
"hgvs_p": null,
"transcript": "NM_001370257.1",
"protein_id": "NP_001357186.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "c.439-102C>T",
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"transcript": "NM_001370258.1",
"protein_id": "NP_001357187.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.1136-102C>T",
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"transcript": "ENST00000553894.6",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.418-102C>T",
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},
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],
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"transcript": "ENST00000555834.5",
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},
{
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"consequences": [
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],
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"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.1141-102C>T",
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},
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],
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.1141-102C>T",
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},
{
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.924-102C>T",
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"transcript": "NR_163406.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.580-102C>T",
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"transcript": "XM_011537206.4",
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],
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],
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"gene_symbol": "RPS6KL1",
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},
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "c.532-102C>T",
"hgvs_p": null,
"transcript": "XM_017021682.2",
"protein_id": "XP_016877171.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.532-102C>T",
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"transcript": "XM_024449716.2",
"protein_id": "XP_024305484.1",
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},
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