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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: 9-4636900-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4636900&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 4636900,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000682582.1",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.227-1501A>C",
"hgvs_p": null,
"transcript": "NM_001353486.2",
"protein_id": "NP_001340415.1",
"transcript_support_level": null,
"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": 3904,
"mane_select": "ENST00000682582.1",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.227-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000682582.1",
"protein_id": "ENSP00000506787.1",
"transcript_support_level": null,
"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": 3904,
"mane_select": "NM_001353486.2",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "n.418-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000451763.6",
"protein_id": null,
"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": 4073,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
"hgvs_p": null,
"transcript": "NM_001353484.2",
"protein_id": "NP_001340413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3768,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
"hgvs_p": null,
"transcript": "NM_001353485.2",
"protein_id": "NP_001340414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3958,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
"hgvs_p": null,
"transcript": "NM_001416130.1",
"protein_id": "NP_001403059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3946,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000707146.1",
"protein_id": "ENSP00000516765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3946,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000707147.1",
"protein_id": "ENSP00000516766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1486,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.128-1501A>C",
"hgvs_p": null,
"transcript": "NM_001353487.1",
"protein_id": "NP_001340416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.178-7732A>C",
"hgvs_p": null,
"transcript": "NM_001039395.4",
"protein_id": "NP_001034484.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.178-7732A>C",
"hgvs_p": null,
"transcript": "ENST00000475086.5",
"protein_id": "ENSP00000417063.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 334,
"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": 10,
"intron_rank": 2,
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"gene_symbol": "SPATA6L",
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"hgvs_c": "c.79-7732A>C",
"hgvs_p": null,
"transcript": "NM_001353488.1",
"protein_id": "NP_001340417.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.269-1501A>C",
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"transcript": "ENST00000381890.9",
"protein_id": "ENSP00000371314.5",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.-101-1501A>C",
"hgvs_p": null,
"transcript": "NM_001353489.1",
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},
{
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],
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"gene_symbol": "SPATA6L",
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"hgvs_c": "c.-101-1501A>C",
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"transcript": "NM_001353490.1",
"protein_id": "NP_001340419.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
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"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "c.-377-1501A>C",
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"transcript": "NM_001353491.2",
"protein_id": "NP_001340420.1",
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},
{
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],
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"gene_symbol": "SPATA6L",
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"hgvs_c": "n.400-1501A>C",
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"transcript": "ENST00000223517.9",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "n.269-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000406861.6",
"protein_id": "ENSP00000384342.2",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "n.227-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000461761.5",
"protein_id": "ENSP00000418458.1",
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},
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],
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"gene_symbol": "SPATA6L",
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},
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],
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"gene_symbol": "SPATA6L",
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},
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"consequences": [
"intron_variant"
],
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"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "n.269-1501A>C",
"hgvs_p": null,
"transcript": "ENST00000486047.5",
"protein_id": "ENSP00000417965.1",
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"aa_start": null,
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"cds_start": -4,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPATA6L",
"gene_hgnc_id": 25472,
"hgvs_c": "n.367-1501A>C",
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"transcript": "ENST00000496798.5",
"protein_id": null,
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"mane_select": null,
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"feature": null
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}